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[Cytogenetic study of a recent case of trisomy 12p]
Bulletin De L'Association Des Anatomistes
|September 1, 1976
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A rare genetic disorder, trisomy 12p, caused multiple congenital defects in a newborn. This condition resulted from a parent
Area of Science:
- Genetics
- Human Chromosomal Abnormalities
- Developmental Biology
Abstract:
A case of trisomy for the short arm and a part of the long arm of chromosome 12 is reported. Before the pregnancy sterility was noted during several years. Birth weight was normal; the newborn with multiple congenital defects died before the 4th day. Her mother, grandmother, and two brothers of the latter showed a balanced translocation t (5 ; 12) (p15 ; q132). The affected child inherited the derived 12 as a 47th chromosome.