Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation.
- 1 February 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (1), 68-72
- https://doi.org/10.1136/jmg.14.1.68
Abstract
A girl with severe mental retardation and odd facies and some features of the cri-du-chat syndrome had only 45 chromosomes. Her karyotype was 45,XX,-5,-14,+der(5)t(5,14)(p15;q13)mat. Her mother and her 2 sisters were balanced reciprocal translocation carriers having 46 chromosomes, one of which was a very small (14pter.fwdarw.14q13::5p15.fwdarw.5pter) that was missing in the proposita.This publication has 14 references indexed in Scilit:
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