PT  - JOURNAL ARTICLE
AU  - S H Roberts
AU  - T Mattina
AU  - K M Laurence
AU  - G Sorge
AU  - L Pavone
TI  - Partial trisomy 12q: report of a case and review.
AID  - 10.1136/jmg.18.6.470
DP  - 1981 Dec 01
TA  - Journal of Medical Genetics
PG  - 470--473
VI  - 18
IP  - 6
4099  - http://jmg.bmj.com/content/18/6/470.short
4100  - http://jmg.bmj.com/content/18/6/470.full
SO  - J Med Genet1981 Dec 01; 18
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.