Trisomy 12p due to familial t(12p-,6q+) translocation

dup(12p) and hypoplastic left heart

“…Also, she had short 5th fingers with single creases not previously reported and 9 arch patterns on fingertips reported in one case [3] . [ 1,2] , and both had a hypoplastic left heart malformation similar to that in the present case. In 2 other patients with dup (12p), congenital heart disease was suspected but not proven [4,5].…”

Mosaic ring 12p and total anomalous pulmonary venous return

“…Congenital heart defects are less frequently found including two patients with hypoplastic left heart [Fryns et al, 1974;Qazi et al, 1981]. TAPVR has previously not been reported in association with 12p duplication, and no prior cases have reported the occurrence of ring 12p.…”

First report of mosaic trisomy 12 in a liveborn individual

“…We are not aware of the existence of trisomy 12, though a few cases have been reported with duplication of 12p or 12q [Uchida and Lin, 1973;Fryns et al, 1974;Armendares et al, 1975; Alfi and Lange, 1976;Hoo, 1976;Biederman et al, 1977;Bijlsma et al, 1977;Carlin and Norman, 1978;Hansteen et al, 1978;Quazi et al, 1981;RethorC et al, 1975;Nielsen et al, 1977;Tenconi et al, 1977; Kondo et al, 1979;Pallister et al, 1977, Harrod et al, 1980Hobolth et al, 1974;Hemming and Brown, 1979;de Muelenaere et al, 1980;Melnyk et al, 19811. This report describes the first case of mosaic trisomy of chromosome 12.…”