[Cytogenetic study of a recent case of trisomy 12p].
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002906:Chromosomes, Human, 6-12 and X; D003241:Consanguinity; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007247:Infertility, Female; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014314:Trisomy
Etude cytogénétique d'un nouveau cas de trisomie 12p.