RT Journal Article
SR Electronic
T1 Partial trisomy 12q: report of a case and review.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 470
OP 473
DO 10.1136/jmg.18.6.470
VO 18
IS 6
A1 S H Roberts
A1 T Mattina
A1 K M Laurence
A1 G Sorge
A1 L Pavone
YR 1981
UL http://jmg.bmj.com/content/18/6/470.abstract
AB A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.