Two reciprocal translocations associated with microcephaly and retardation (original) (raw)
Related papers
A mentally retarded child with a translocation involving chromosomes 12 and 19
Journal of Medical Genetics, 1975
Foundation-March of Dimes, New York. Seabright, M. (1972). The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma, 36, 204-210. A mentally retarded child with a translocation involving chromosomes 12 and 19 Summary. This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations. Many instances of autosomal translocations in man have been reported. Since the introduction of the banding techniques it is possible to identify the chromosomes involved in the rearrangements. This report concerns a female child with severe psychomotor retardation, bilateral radioulnar synostosis, and agenesis of the corpus callosum. On cytogenetic study, she appeared to have a reciprocal translocation between the long arms of chromosomes 12 and 19. Case report The patient, a girl, is the third child in a sibship of six. Her parents and sibs are phenotypically normal. Her unrelated father and mother were 25 and 23 years old, respectively at the time of her birth. Hereditary abnormalities are unknown among the relatives. Pregnancy was uncomplicated and delivery spontaneous and at term with a birth weight of 3000 g. The neonatal period was uneventful. Psychomotor development was slow during infancy. She did not walk before the age of 2 years. At examination at 61 years, length was 110 cm and head circumference 52 cm. She showed slight hypertelorism and synophrys. Her ears were low-set and slightly dysmorphic (Fig. 1). Two extra nipples were present on the thorax. Her fingers showed arachnodactyly and there was syndactyly between the second and third toes. A bilateral restriction of pronation-supination movement was noticed. The flexion creases of the hands and feet were normal. Neurological examination revealed only a subnormal motor development.
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.
Human Genetics, 1988
A complex balanced three-break-point rearrangement between chromosome 2 and chromosome 7 and a balanced reciprocal translocation between chromosome 5 and chromosome 20, were found associated in a girl and in her mother and grandmother. All three of them have microcephaly, low stature, peculiar asymmetric facies and slight mental retardation. We postulate that one (or more) of the five chromosome break-points disrupted one (or more) gene, leading to the expression of the syndrome and to its segregation with the chromosome rearrangement in three generation. Our finding confirms the efficiency of balanced translocations for gene mapping, althought it has led only to the exclusion mapping of all chromosomes except 2, 5, 7 and 20.
Case 3: A Term Newborn with Intrauterine Growth Restriction and Severe Fetal Brain Anomalies
NeoReviews, 2018
A 29-year-old gravida 4, para 3 woman is seen by the maternal-fetal medicine team because of abnormal ultrasonographic findings at 34 weeks of gestation. The fetus has severe intrauterine growth restriction (IUGR) (<1st percentile) and multiple organ abnormalities, including microcephaly, small forebrain, scalloped parietal bones, bilateral ventriculomegaly, dilated third ventricle, splayed thalami, irregular falx, scattered intracranial calcifications, and a small, flattened forehead. Fetal echocardiography shows levorotation of the cardiac axis, tortuous ductus arteriosus, and tricuspid valve thickening. Her prenatal history is notable for travel to the Dominican Republic until 12 weeks of gestation. She denies any fever, insect bites, rash, conjunctivitis, or arthralgia. Findings on other prenatal laboratory screening are reassuring. After the induction of labor for IUGR, a male infant is delivered at 37 2/7 weeks of gestation via normal spontaneous vaginal delivery. Brief positive pressure ventilation is given in the delivery room for an initial low heart rate. The heart rate quickly recovers, but respiratory distress develops, requiring continuous positive airway pressure (CPAP). The infant is transferred to the NICU with the administration of CPAP. Upon admission, physical examination shows a boy with a birthweight of 2,140 g (2.8th percentile), length of 40.5 cm (<1st percentile), and head circumference of 29 cm (<1st percentile). Pertinent findings include microcephaly and global hypertonia, along with contractures of the upper and lower extremities (Fig 1).