Kamal Naguib - Academia.edu (original) (raw)
Papers by Kamal Naguib
Recurrent miscarriage affects only 1 % of all couples. It is one of the most frustrating experien... more Recurrent miscarriage affects only 1 % of all couples. It is one of the most frustrating experiences for both patients and clinicians. Objectives: The present study aimed at studying: the role of cytogenetic abnormalities and hereditary thrombophilias in repeated pregnancy losses (RPL), and the associated risk factors. Setting: Kuwait Medical Genetics Centre Methods: A cross section study for cytogenetic abnormalities followed by a nested case control was conducted for 1000 couples referred because of RPL. A control group was selected at random from female patients attending the outpatient clinics for a reason other than abortion for comparison with those who were proved to have chromosomal abnormalities. Asubgroup of 100 female partners, who had no cytogenetic abnormalities, were further tested for the presence of factor V Leiden (FVL; Arg506Gln) and prothrombin (FII) gene mutations (G20210A). Results: the prevalence of chromosomal abnormalities was 4.4%; most of them were structur...
Objective: To correlate the site and size of dystrophin gene deletion with the clinical picture i... more Objective: To correlate the site and size of dystrophin gene deletion with the clinical picture in patients with dystrophinopathies. Design: The dystrophin gene is one of the largest known genes. More than half of the dystrophinopathy cases are associated with intrageneic deletions. The importance of the study arises from the fact that dystrophin cDNA probes provide a direct method of genetic diagnosis. This is the first study in an Arab population and only the second to use a three multiplex PCR method. Setting: Kuwait Medical Genetic Centre and Faculty of Medicine –Ain Shams University, Egypt Subjects and Methods: Fifty-two patients with dystrophinopathies (50 with Duchenne muscular dystrophy( DMD) and 2 with Becker muscular dystrophy (BMD) from both Kuwait and Egypt were ascertained. Dystrophin gene deletions were detected using three multiplex reactions. Results: DNA analysis showed that 71.4% of the patients had deletion of the dystrophin gene while 28.6% showed no deletion. 24...
The Japanese Journal of Human Genetics, 1986
A fifteen month old girl with multiple congenital anomalies, mental retardation and de novo parti... more A fifteen month old girl with multiple congenital anomalies, mental retardation and de novo partial monosomy 2l with unusual karyotype is described. Anomalies are hypertonia, scaphocephaly, prominent occiput, hypertelorism, telecanthus, antimongoloid slanting of the eyes, absent philtrum pillars, characteristic long tapering spindle shaped fingers with adducted thumbs crossing the palm. High resolution banding showed mosaic two cell lines each with a modal number of 45 chromosomes, but carrying different translocations finally resulting in partial monosomy for the segment 21pter-* q21.2.
Alexandria Journal of …, 1999
... Study of Dystrophinopathies: A Comparative Study Between Kuwait and Egypt Laila A. Bastaki, 1... more ... Study of Dystrophinopathies: A Comparative Study Between Kuwait and Egypt Laila A. Bastaki, 1 Sadika A. Al-Awadi, 1 Allie Moosa, 2 Rabah M ... Twenty six patients were selected randomly from patients attending the neuromuscular out-patient clinic in Mubarak Hospital, Kuwait. ...
American Journal of Medical Genetics, 1985
We describe 3 sibs, two females and a male, with hypogonadism, defective Mullerian development in... more We describe 3 sibs, two females and a male, with hypogonadism, defective Mullerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely.
American Journal of Medical Genetics, 1988
American Journal of Medical Genetics, 1987
Interstitial deletions of the middle portion of the long arm of chromosome 5 are relatively rare.... more Interstitial deletions of the middle portion of the long arm of chromosome 5 are relatively rare. So far, only 36 cases have been reported. Because of the repetitive banding pattern of this region, the extent and localization of the deleted segment has not been well characterized in the majority of reported cases. This has complicated attempts to establish a definite karyotype-phenotype correlation. We report a further case with a ''de novo'' interstitial deletion of the region 5q?15 to 5q?22 identified by standard karyotype analysis. The proband presented with failure to thrive, developmental delay, distinct craniofacial dysmorphic features, and associated structural anomalies (amongst them cleft palate, iris colobomata, and horseshoe kidney, which have previously been reported in 5q deletion cases). In addition, this child had an Arnold-Chiari type I malformation that required surgical decompression. FISH studies using BAC clones spanning the 5q15 to 5q22 region revealed that these were all present in both homologues. Use of more distal clones allowed delineation of the deleted region to 5q22.3q23.3 and to narrow down the breakpoints to approximately 200 kb. The 14 Mb deleted region contains about 60 genes but, with the possible exception of FBN2 and DMXL1, there are no obvious candidate genes for the specific components of the phenotype. This case illustrates the discrepancy between cytogenetic and molecular techniques in trying to delineate 5q interstitial deletions. Molecular studies need to be performed on these patients, to establish genotype-phenotype correlation and to understand the role and influence of genes in this region.
American Journal of Medical Genetics, 1988
The report of Willems et al. [1987] on a large kindred with an unusual form of X-linked hydroceph... more The report of Willems et al. [1987] on a large kindred with an unusual form of X-linked hydrocephalus without aqueductal stenosis is very interesting and prompts us to describe a consanguineous Arab family with four hydrocephalic children (two males, and two females), one confirmed at autopsy to have the Arnold-Chiari malformation. This family may indicate the existence of an autosomal recessive form, adding further evidence for genetic heterogeneity of familial hydrocephalus. CLINICAL REPORTS Family Data (Fig. 1) The father and mother (HI-7 and III-8) were phenotypically normal first cousins of Palestinian Arab origin. They were 35 and 27 years old, respectively, when evaluated in 1983. They have a normal daughter (IV-1) born in 1977 and another (IV-2), who died in infancy from bronchopneumonia. The third child (IV-3) was a male stillborn at term by cesarean section (CS) with hydrocephalus documented from files, with occipitofrontal circumference (OFC) of 42 cm and weight of 3,400 g, with no other reported anomalies.
epha.eg.net
Corresponding Author: Dr. Kamal K. Naguib Department of Public Health High Institute of Public He... more Corresponding Author: Dr. Kamal K. Naguib Department of Public Health High Institute of Public Health Email: kknaguib@hotmail.com ... Cytogenetic Abnormalities and Herdetiry Thrombophilias among the Abortees: Study of 1000 Couples ... Alaa E. Elshafaay*, Fawziah M. ...
The Journal of the Egyptian Public Health Association, Feb 1, 2008
Recurrent miscarriage affects only 1% of all couples. It is one of the most frustrating experienc... more Recurrent miscarriage affects only 1% of all couples. It is one of the most frustrating experiences for both patients and clinicians. The present study aimed at studying: the role of cytogenetic abnormalities and hereditary thrombophilias in repeated pregnancy losses (RPL), and the associated risk factors. Kuwait Medical Genetics Centre Methods: A cross section study for cytogenetic abnormalities followed by a nested case control was conducted for 1000 couples referred because of RPL. A control group was selected at random from female patients attending the outpatient clinics for a reason other than abortion for comparison with those who were proved to have chromosomal abnormalities. Asubgroup of 100 female partners, who had no cytogenetic abnormalities, were further tested for the presence of factor V Leiden (FVL; Arg506Gln) and prothrombin (FII) gene mutations (G20210A). the prevalence of chromosomal abnormalities was 4.4%; most of them were structural aberrations (79.5%) represented mainly by inversion and translocation. Carriers of FVL mutation (G1691A) among the patient's group was significantly higher than that of the control group (10% vs. 2% respectively).One patient was heterozygous for FII G20210A mutations. This was nearly the same like that found in controls. The percentage of consanguineous marriages among patient group was less than that among the control group. Chromosome study for couple who have had RPL must be carried out. For complete and proper workup we have to investigate the presence of FVL, and FII G20210A mutations among patients with normal karyotype.
Journal of Medical Genetics, 1999
Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ
We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity... more We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers.
Fertility and sterility, 1988
We report on an Arab family in which a mother and two of her daughters, despite having deletion X... more We report on an Arab family in which a mother and two of her daughters, despite having deletion Xq25, are fertile. So far, only one case of deletion Xq25 associated with fertility has been reported. Consistent inactivation of the deleted X chromosome in the proposita and early menopause in the mother were noted. The effect of Xq deletion on fertility and the CRH is discussed.
![Research paper thumbnail of Hypoparathyroidism[corrected]-retardation-dysmorphism (HRD): is there a new variant not caused by a TBCE mutation?](https://attachments.academia-assets.com/71838206/thumbnails/1.jpg)
](American journal of medical genetics. Part A, 2007
Medical Principles and Practice, 1999
Objective: To study the families with recurrent trisomy 21 in sibs, and to understand the increas... more Objective: To study the families with recurrent trisomy 21 in sibs, and to understand the increased risk of recurrence in some selected families. The importance of parental mosaicism as a cause for non-disjunction or the possibility of genetic predisposition to nondisjunction is addressed. Methods: Three young unrelated Kuwaiti families each confirmed to have 3 sibs with regular trisomy 21 were investigated. Detailed chromosome analysis of the peripheral blood culture in Down's syndrome children and their parents was carried out. At least 100 cells in each of the cases were scored to exclude low grade mosaicism. Results: Regular trisomy 21 was confirmed in all the sibs in the three families. Mosaicism was not detected in parents. However, gonadal tissue mosaicism could not be excluded, as it is not practical to study the gonadal biopsy in the parents. Conclusion: Though parental mosaicism (gonadal, more often maternal), has been reported in familial recurrent trisomy 21 cases, no mosaicism could be confirmed in our study. Our finding suggests that the possibility of a genetic predisposition to non-disjunction parental mosaicism should be considered in counselling families having sibs with trisomy 21.
Journal of Medical Genetics, 1987
We report an Arab family of phenotypically normal first cousin parents with two offspring showing... more We report an Arab family of phenotypically normal first cousin parents with two offspring showing variable manifestations of Brachmann-de Lange syndrome. The proband, who had many diagnostic symptoms of the syndrome with apparently normal chromosomes, died at the age of three months. His sister was less severely affected and lived for six years. The genetic basis of Brachmann-de Lange syndrome is discussed and homozygosity for an autosomal recessive allelle is suggested as an underlying cause in some cases. Familial occurrence of Brachmann-de Lange syndrome (BDLS) has been reported frequently and was reviewed recently.' Most of the cases reported seem to be the result of an autosomal dominant trait and only a few are not convincingly explained by this form of inheritance. However, consanguinity has been reported in several cases.2-8 We report on two sibs with BDLS who have normal first cousin parents.
Journal of Medical Genetics, 1988
Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. Howe... more Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed. In 1970 Aarskog' described a syndrome of short stature with facial and genital anomalies in seven males from two generations in a family. Earlier probable cases were reported from the USA in 1966 by Welch and Temtamy2 and in 1967 by Hanley et al.3 Since then, many reports over two decades have shown that males show full expression and that in females expression, if present, is limited to minor signs only; therefore X linked recessive, X linked semi-dominant, or sex influenced autosomal dominant inheritance have been suggested. Full male and female expression has been noted recently by Bawle et al4 in a mother and her son who have the same balanced X;autosome translocation. Here we report on a family with five affected sibs, males and females, who have a distinct disorder with several features resembling Aarskog's faciodigitogenital syndrome. Case reports CASE 1 The proband, a six year old male, was examined in FIG 1 Family pedigree. /
Clinical Genetics, 2008
Kuwait Thirteen cases of trisomy 18 (Ts) were ascertained clinically and cytogenetically during t... more Kuwait Thirteen cases of trisomy 18 (Ts) were ascertained clinically and cytogenetically during the period 1984-1986. Eight cases were delivered during 1986 in the Maternity Hospital out of 17318 live births, making an incidence of 4.61/10000, which is significantly higher than the international incidence as well as the incidence in previous years. The female-to-male sex ratio was 1.8/1, the median maternal age 32.5, and the median paternal age 40. There was no history of polyhydramnios. Five cases were delivered by cesarean section and four cases died in the neonatal period. All cases proved to be full trisomy 18 with no mosaicism detected; in one case parental inversion 9 was detected.
Medical Principles …, 1997
... Complete Testicular Feminization Syndrome with 47, XYY Karyotype: A Double Hit Phenomenon Kam... more ... Complete Testicular Feminization Syndrome with 47, XYY Karyotype: A Double Hit Phenomenon Kamal K. Naguib a , Nabeel N. Al-Etreibi b , Sadika A. Al-Awadi b , Mohamed K. El-Harbi c , Ahmed Saleh Kamal c a Kuwait Medical Genetics Center, Ministry of Public Health, b ...
Recurrent miscarriage affects only 1 % of all couples. It is one of the most frustrating experien... more Recurrent miscarriage affects only 1 % of all couples. It is one of the most frustrating experiences for both patients and clinicians. Objectives: The present study aimed at studying: the role of cytogenetic abnormalities and hereditary thrombophilias in repeated pregnancy losses (RPL), and the associated risk factors. Setting: Kuwait Medical Genetics Centre Methods: A cross section study for cytogenetic abnormalities followed by a nested case control was conducted for 1000 couples referred because of RPL. A control group was selected at random from female patients attending the outpatient clinics for a reason other than abortion for comparison with those who were proved to have chromosomal abnormalities. Asubgroup of 100 female partners, who had no cytogenetic abnormalities, were further tested for the presence of factor V Leiden (FVL; Arg506Gln) and prothrombin (FII) gene mutations (G20210A). Results: the prevalence of chromosomal abnormalities was 4.4%; most of them were structur...
Objective: To correlate the site and size of dystrophin gene deletion with the clinical picture i... more Objective: To correlate the site and size of dystrophin gene deletion with the clinical picture in patients with dystrophinopathies. Design: The dystrophin gene is one of the largest known genes. More than half of the dystrophinopathy cases are associated with intrageneic deletions. The importance of the study arises from the fact that dystrophin cDNA probes provide a direct method of genetic diagnosis. This is the first study in an Arab population and only the second to use a three multiplex PCR method. Setting: Kuwait Medical Genetic Centre and Faculty of Medicine –Ain Shams University, Egypt Subjects and Methods: Fifty-two patients with dystrophinopathies (50 with Duchenne muscular dystrophy( DMD) and 2 with Becker muscular dystrophy (BMD) from both Kuwait and Egypt were ascertained. Dystrophin gene deletions were detected using three multiplex reactions. Results: DNA analysis showed that 71.4% of the patients had deletion of the dystrophin gene while 28.6% showed no deletion. 24...
The Japanese Journal of Human Genetics, 1986
A fifteen month old girl with multiple congenital anomalies, mental retardation and de novo parti... more A fifteen month old girl with multiple congenital anomalies, mental retardation and de novo partial monosomy 2l with unusual karyotype is described. Anomalies are hypertonia, scaphocephaly, prominent occiput, hypertelorism, telecanthus, antimongoloid slanting of the eyes, absent philtrum pillars, characteristic long tapering spindle shaped fingers with adducted thumbs crossing the palm. High resolution banding showed mosaic two cell lines each with a modal number of 45 chromosomes, but carrying different translocations finally resulting in partial monosomy for the segment 21pter-* q21.2.
Alexandria Journal of …, 1999
... Study of Dystrophinopathies: A Comparative Study Between Kuwait and Egypt Laila A. Bastaki, 1... more ... Study of Dystrophinopathies: A Comparative Study Between Kuwait and Egypt Laila A. Bastaki, 1 Sadika A. Al-Awadi, 1 Allie Moosa, 2 Rabah M ... Twenty six patients were selected randomly from patients attending the neuromuscular out-patient clinic in Mubarak Hospital, Kuwait. ...
American Journal of Medical Genetics, 1985
We describe 3 sibs, two females and a male, with hypogonadism, defective Mullerian development in... more We describe 3 sibs, two females and a male, with hypogonadism, defective Mullerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely.
American Journal of Medical Genetics, 1988
American Journal of Medical Genetics, 1987
Interstitial deletions of the middle portion of the long arm of chromosome 5 are relatively rare.... more Interstitial deletions of the middle portion of the long arm of chromosome 5 are relatively rare. So far, only 36 cases have been reported. Because of the repetitive banding pattern of this region, the extent and localization of the deleted segment has not been well characterized in the majority of reported cases. This has complicated attempts to establish a definite karyotype-phenotype correlation. We report a further case with a ''de novo'' interstitial deletion of the region 5q?15 to 5q?22 identified by standard karyotype analysis. The proband presented with failure to thrive, developmental delay, distinct craniofacial dysmorphic features, and associated structural anomalies (amongst them cleft palate, iris colobomata, and horseshoe kidney, which have previously been reported in 5q deletion cases). In addition, this child had an Arnold-Chiari type I malformation that required surgical decompression. FISH studies using BAC clones spanning the 5q15 to 5q22 region revealed that these were all present in both homologues. Use of more distal clones allowed delineation of the deleted region to 5q22.3q23.3 and to narrow down the breakpoints to approximately 200 kb. The 14 Mb deleted region contains about 60 genes but, with the possible exception of FBN2 and DMXL1, there are no obvious candidate genes for the specific components of the phenotype. This case illustrates the discrepancy between cytogenetic and molecular techniques in trying to delineate 5q interstitial deletions. Molecular studies need to be performed on these patients, to establish genotype-phenotype correlation and to understand the role and influence of genes in this region.
American Journal of Medical Genetics, 1988
The report of Willems et al. [1987] on a large kindred with an unusual form of X-linked hydroceph... more The report of Willems et al. [1987] on a large kindred with an unusual form of X-linked hydrocephalus without aqueductal stenosis is very interesting and prompts us to describe a consanguineous Arab family with four hydrocephalic children (two males, and two females), one confirmed at autopsy to have the Arnold-Chiari malformation. This family may indicate the existence of an autosomal recessive form, adding further evidence for genetic heterogeneity of familial hydrocephalus. CLINICAL REPORTS Family Data (Fig. 1) The father and mother (HI-7 and III-8) were phenotypically normal first cousins of Palestinian Arab origin. They were 35 and 27 years old, respectively, when evaluated in 1983. They have a normal daughter (IV-1) born in 1977 and another (IV-2), who died in infancy from bronchopneumonia. The third child (IV-3) was a male stillborn at term by cesarean section (CS) with hydrocephalus documented from files, with occipitofrontal circumference (OFC) of 42 cm and weight of 3,400 g, with no other reported anomalies.
epha.eg.net
Corresponding Author: Dr. Kamal K. Naguib Department of Public Health High Institute of Public He... more Corresponding Author: Dr. Kamal K. Naguib Department of Public Health High Institute of Public Health Email: kknaguib@hotmail.com ... Cytogenetic Abnormalities and Herdetiry Thrombophilias among the Abortees: Study of 1000 Couples ... Alaa E. Elshafaay*, Fawziah M. ...
The Journal of the Egyptian Public Health Association, Feb 1, 2008
Recurrent miscarriage affects only 1% of all couples. It is one of the most frustrating experienc... more Recurrent miscarriage affects only 1% of all couples. It is one of the most frustrating experiences for both patients and clinicians. The present study aimed at studying: the role of cytogenetic abnormalities and hereditary thrombophilias in repeated pregnancy losses (RPL), and the associated risk factors. Kuwait Medical Genetics Centre Methods: A cross section study for cytogenetic abnormalities followed by a nested case control was conducted for 1000 couples referred because of RPL. A control group was selected at random from female patients attending the outpatient clinics for a reason other than abortion for comparison with those who were proved to have chromosomal abnormalities. Asubgroup of 100 female partners, who had no cytogenetic abnormalities, were further tested for the presence of factor V Leiden (FVL; Arg506Gln) and prothrombin (FII) gene mutations (G20210A). the prevalence of chromosomal abnormalities was 4.4%; most of them were structural aberrations (79.5%) represented mainly by inversion and translocation. Carriers of FVL mutation (G1691A) among the patient's group was significantly higher than that of the control group (10% vs. 2% respectively).One patient was heterozygous for FII G20210A mutations. This was nearly the same like that found in controls. The percentage of consanguineous marriages among patient group was less than that among the control group. Chromosome study for couple who have had RPL must be carried out. For complete and proper workup we have to investigate the presence of FVL, and FII G20210A mutations among patients with normal karyotype.
Journal of Medical Genetics, 1999
Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ
We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity... more We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers.
Fertility and sterility, 1988
We report on an Arab family in which a mother and two of her daughters, despite having deletion X... more We report on an Arab family in which a mother and two of her daughters, despite having deletion Xq25, are fertile. So far, only one case of deletion Xq25 associated with fertility has been reported. Consistent inactivation of the deleted X chromosome in the proposita and early menopause in the mother were noted. The effect of Xq deletion on fertility and the CRH is discussed.
American journal of medical genetics. Part A, 2007
Medical Principles and Practice, 1999
Objective: To study the families with recurrent trisomy 21 in sibs, and to understand the increas... more Objective: To study the families with recurrent trisomy 21 in sibs, and to understand the increased risk of recurrence in some selected families. The importance of parental mosaicism as a cause for non-disjunction or the possibility of genetic predisposition to nondisjunction is addressed. Methods: Three young unrelated Kuwaiti families each confirmed to have 3 sibs with regular trisomy 21 were investigated. Detailed chromosome analysis of the peripheral blood culture in Down's syndrome children and their parents was carried out. At least 100 cells in each of the cases were scored to exclude low grade mosaicism. Results: Regular trisomy 21 was confirmed in all the sibs in the three families. Mosaicism was not detected in parents. However, gonadal tissue mosaicism could not be excluded, as it is not practical to study the gonadal biopsy in the parents. Conclusion: Though parental mosaicism (gonadal, more often maternal), has been reported in familial recurrent trisomy 21 cases, no mosaicism could be confirmed in our study. Our finding suggests that the possibility of a genetic predisposition to non-disjunction parental mosaicism should be considered in counselling families having sibs with trisomy 21.
Journal of Medical Genetics, 1987
We report an Arab family of phenotypically normal first cousin parents with two offspring showing... more We report an Arab family of phenotypically normal first cousin parents with two offspring showing variable manifestations of Brachmann-de Lange syndrome. The proband, who had many diagnostic symptoms of the syndrome with apparently normal chromosomes, died at the age of three months. His sister was less severely affected and lived for six years. The genetic basis of Brachmann-de Lange syndrome is discussed and homozygosity for an autosomal recessive allelle is suggested as an underlying cause in some cases. Familial occurrence of Brachmann-de Lange syndrome (BDLS) has been reported frequently and was reviewed recently.' Most of the cases reported seem to be the result of an autosomal dominant trait and only a few are not convincingly explained by this form of inheritance. However, consanguinity has been reported in several cases.2-8 We report on two sibs with BDLS who have normal first cousin parents.
Journal of Medical Genetics, 1988
Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. Howe... more Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed. In 1970 Aarskog' described a syndrome of short stature with facial and genital anomalies in seven males from two generations in a family. Earlier probable cases were reported from the USA in 1966 by Welch and Temtamy2 and in 1967 by Hanley et al.3 Since then, many reports over two decades have shown that males show full expression and that in females expression, if present, is limited to minor signs only; therefore X linked recessive, X linked semi-dominant, or sex influenced autosomal dominant inheritance have been suggested. Full male and female expression has been noted recently by Bawle et al4 in a mother and her son who have the same balanced X;autosome translocation. Here we report on a family with five affected sibs, males and females, who have a distinct disorder with several features resembling Aarskog's faciodigitogenital syndrome. Case reports CASE 1 The proband, a six year old male, was examined in FIG 1 Family pedigree. /
Clinical Genetics, 2008
Kuwait Thirteen cases of trisomy 18 (Ts) were ascertained clinically and cytogenetically during t... more Kuwait Thirteen cases of trisomy 18 (Ts) were ascertained clinically and cytogenetically during the period 1984-1986. Eight cases were delivered during 1986 in the Maternity Hospital out of 17318 live births, making an incidence of 4.61/10000, which is significantly higher than the international incidence as well as the incidence in previous years. The female-to-male sex ratio was 1.8/1, the median maternal age 32.5, and the median paternal age 40. There was no history of polyhydramnios. Five cases were delivered by cesarean section and four cases died in the neonatal period. All cases proved to be full trisomy 18 with no mosaicism detected; in one case parental inversion 9 was detected.
Medical Principles …, 1997
... Complete Testicular Feminization Syndrome with 47, XYY Karyotype: A Double Hit Phenomenon Kam... more ... Complete Testicular Feminization Syndrome with 47, XYY Karyotype: A Double Hit Phenomenon Kamal K. Naguib a , Nabeel N. Al-Etreibi b , Sadika A. Al-Awadi b , Mohamed K. El-Harbi c , Ahmed Saleh Kamal c a Kuwait Medical Genetics Center, Ministry of Public Health, b ...