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.
The case history of an adult patient with acute myelomonoblastic leukaemia is presented. The leukaemia developed 4 yr after the first irradiation for a Wilms' tumour. Approximately 35% of the bone marrow cells had 47 chromosomes and were trisomic for chromosome 9.
The case of a mentally retarded girl with a number of dysmorphic features, Raynaud's phenomenon, hypotonia and petit mal seizures is presented. Laboratory investigations showed alpha-aminoadipic aciduria and a high level of fetal haemoglobin. Oral L-lysine loading resulted in a marked increase of alpha-aminoadipic acid in blood and urine. After 3 months of pyridoxine medication the increase of alpha-aminoadipic acid in blood and urine during the oral L-lysine loading test was less than in the test before treatment. A normal degradation rate of DL-alpha-amino [1-14C] adipic acid in fibroblasts of the patient, as measured by 14CO2 production, did not indicate a primary enzyme defect in the alpha-aminoadipic acid transamination or decarboxylation steps. The persistent HbF could be the result of stress on the erythropoiesis by a secondary induced defect in an early stage of haemoglobin synthesis in which alpha-amino-beta-ketoadipic acid, a structural analogue of alpha-amino-adipic acid, is an intermediate.
The clinical and cytogenetic data are presented of a child with multiple congenital malformations, including cystic kidneys. A trisomy for at least the larger part of the short arm of chromosome No. 10 in association with a translocation between chromosomes Nos. 10 and 14 was found in peripheral blood lymphocytes and skin fibroblasts. Both the mother and a younger sib were balanced carriers of the translocation.
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