Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis (original) (raw)
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Prenatal diagnosis and molecular cytogenetic characterisation of a de novo 18p deletion
Journal of Obstetrics & Gynaecology, 2014
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3/q32.12) in a pregnancy associated with abnormal maternal serum biochemistry. Case Report: A 19-year-old woman underwent amniocentesis in the second trimester because of abnormal maternal serum biochemistry. Her husband was 33 years old. At 16 weeks of gestation, the levels of a-fetoprotein, unconjugated estriol, total b-human chorionic gonadotropin, and inhibin A were 0.8 multiples of median (MoM), 0.84 MoM, 3.06 MoM, and 1.14 MoM, respectively, consistent with a positive trisomy 21 risk of 1/269. Results of an amniocentesis revealed a small de novo interstitial duplication of 14q encompassing 14q31-q32.1. An array comparative genomic hybridization analysis detected a 6.6-Mb duplication at chromosome 14q31.3-q32.12. Results of a fluorescence in situ hybridization analysis showed a direct duplication of interstitial 14q. The karyotype was 46,XY,dup(14) (q31.3q32.12). Level II ultrasound was unremarkable. The parents decided to continue the pregnancy. A 3805-g healthy male baby was delivered at 39 weeks of gestation. When examined at 6 months of age, the neonate was normal in growth and psychomotor development with no apparent phenotypic abnormalities, although long-term followups are required. Conclusion: Abnormal maternal serum biochemistry in the second trimester may be a distinctive prenatal feature in pregnancy associated with fetal chromosome 14q duplication.
Journal of Medical Genetics, 1973
A Child with Multiple Congenital Malformations and a 46,XX,t(Bq+;Dq-)/45,XX, B, D, + der(B),t(Bq +;Dq) Karyotype Summary. A case of a female infant with malformations of upper extremities and mental and growth retardation is reported. The karyotype showed a 46,XX, t(Bq+ ;Dq-)/45,XX,-B,-D,+ der(B), t(Bq+ ;Dq-) mosaicism. The clinical findings in relation to the long arm deletion of a B-group chromosome are discussed. A case is presented of a child with multiple malformations whose karyotype demonstrates a translocation between the long arm of a B and the long arm of a D chromosome. Case Report The proposita, born 3 March 1971, was the second child of a 24-year-old mother and a 34-year-old father. She was born after 42 weeks' gestation; labour being induced. Pelvic radiology was performed in the mother on the 10th day of pregnancy. The patient was referred to the genetic clinic because of multiple congenital malformations. Deformities of the arms had been noted at birth and the patient had looked ill. On physical examination (6 August 1971), weight was 3540 g, height 60 cm, and head circumference 38 cm. The head was dolichocephalic. The ears were flared and large. Hypertelorism, blue sclerae, and highly arched palate with cleft soft palate were present. A bluish colour was noted in the circumoral region (Fig. 1). Examination of the neck, heart, lungs, and genitalia showed them to be normal. The examination of the abdomen showed the liver 3-5 cm below the right costal margin and the spleen 1-5 cm below the left costal border. Case Report C. C. (JHH 131 89 28), a white male, born on 27 May 1967, was the product of an uneventful second pregnancy. Development was rather unremarkable; he had walked at 16 months, his teeth were normal, and he spoke a few words. Genitalia were normal and no abnormalities Case Reports 379 copyright.
BMC Medical Genomics
Background: Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at risk of production of unbalanced gametes during meiosis, as a result of various forms of chromosome segregation. This may cause infertility, non-implantation of the embryo, shorter embryo or foetus survival, as well as congenital defects and developmental disorders in children after birth. The increasing popularity of cytogenetic molecular techniques, such as microarray-based CGH (aCGH), contributed to the improved detection of chromosomal abnormalities in patients with intellectual disability, however, these modern techniques do not allow the identification of the balanced in potential carriers. Therefore, classical chromosome analysis with GTG technique still plays an important role in the identification of balanced rearrangements in every case of procreation failure. Case presentation: In this article, a family with multiple occurrences of 17p13.3 duplication syndrome in the offspring and multiple miscarriages resulting from carrying of the balanced reciprocal translocation t(7;17)(p22;p13. 2) by proband father is presented. The aCGH diagnostics allowed the identification of an unbalanced fragment responsible for the occurrence of clinical signs in the female patient, while karyotyping and FISH using specific probes allowed the localization of the additional material in the patient chromosomes, and identified the type of this translocation in the carriers. Conclusions: Identification of a balanced structural aberration in one of the partners allows direct diagnostics for the exclusion or confirmation of genetic imbalance in the foetus via traditional invasive prenatal diagnostics. It is also possible to use an alternative method, Preimplantation Genetic Diagnosis (PGD) after in vitro fertilization, which prevents initiating pregnancy if genetic imbalance is detected in the embryo.
European Journal of Obstetrics & Gynecology and Reproductive Biology, 2010
Unbalanced translocation 6p/16q in one fetus is a very rare event and the prenatal sonographic findings have never been published before. We will give a short overview of the literature along with a case report focussing on prenatal ultrasound features and molecular cytogenetic analysis. Case description: A 21-year-old primigravid woman presented with a singleton pregnancy at 19 weeks' gestation. The fetus revealed a mild hydrocephalus, a ventricular septal defect (VSD), a Dandy-Walker malformation as well as an intrauterine growth retardation (IUGR) and limb anomalities. MLPA analysis from amniotic fluid cells showed an unbalanced translocation from the subtelomeric region of chromosome 6p to the subtelomeric region of chromosome 16q. Karyotype of the fetus was 46, XX.ishder(6)t(6;16)(p2?5;q?13)(pVYS246A+, pVYS228BÀ, pVYS229A+). Despite the karyotype the mother decided not to interrupt pregnancy. The fetus died in utero within the 39th week of gestation and was delivered vaginally after labour induction, with a birth weight of 1815 g. Prenatal FISH and MLPA studies can be very important to help outline the chromosomal area of deletion and duplication and the sonographic findings forebode the cytogenetic region of interest. Subsequent to the processing of the case, a complete Medline search was conducted to review previous cases with similar genetic alterations.
American Journal of Medical Genetics Part A, 2005
We report on the autopsy findings of a 37-year-old man with a complex karyotype (mos46,XY,del(18)(p11.1)[14]/46,XY, -13, del (18)(p11.1), +20[8]/47,XY,del(18)(p11.1), +20[8]). He was known to be blind, non-ambulatory, have severe mental retardation, and a seizure disorder. External physical findings at the time of autopsy included micrognathia, short stubby fingers, and rocker bottom feet. Left lobe dominance of the liver and mislocation of the ileocecal junction and appendix were noted on internal examination. The brain was small (700 g) and poorly developed. Microscopically it showed an absence of neurons in the olivary and dentate nuclei, absence of Purkinje cells in the cerebellum, severe depletion of internal granular cells in the cerebellum, and cerebellar dysplasia. Fat infiltration was noted in an unusual distribution in several organs including a pattern in the heart consistent with arrythmogenic right ventricular dysplasia (ARVD). Findings of this mosaic chromosomal karyotype have not been previously described. This report will discuss this individuals physical findings and their relation to similar monochromosomal aberrations.