Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

1 April 1983

journal article
research article
Published by BMJ in Journal of Medical Genetics

Vol. 20 (2) , 86-89
https://doi.org/10.1136/jmg.20.2.86

Abstract

A newborn child with an unusual facial appearance and multiple abnormalities was found to be trisomic for a large part of 12q as a result of adjacent 1 segregation of a familial translocation, t(9;12) (p24;q21.2). A combination of cytogenetic analysis, clinical features and enzyme marker studies allows an accurate assessment of the breakpoints. Although trisomic for a considerably larger area of 12q than other reported cases, there are many similar features suggesting that trisomy 12q is a clinically recognizable syndrome. The frequency and mode of segregation of 12q translocations and their implications for genetic counseling are discussed.

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