Partial Autosomal Trisomy and Translocation

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Abstract
An infant with multiple congenital anomalies was born to phenotypically and karyotypically normal parents who had previously had three normal children. The child exhibited growth failure, cardiac, renal, and musculoskeletal anomalies and died at 7 months of age. Karyotype analysis revealed 46 chromosomes including one abnormally long chromosome. On the basis of short arm length and the centromere position it seems likely that a member of the B group (chromosomes 4 and 5) received the translocated partially trisomic chromosome. Although definitive cytological and clinical proof is lacking, it seems most likely that the partially trisomic chromosome resulted from nondisjunction of a D or E group chromosome.

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