46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.
作者信息
Maaswinkel-Mooij P D, de Jong P, Beverstock G C
机构信息
Department of Pediatrics and Clinical Genetics, University Hospital Leiden, The Netherlands.
出版信息
Clin Genet. 1993 Feb;43(2):76-8. doi: 10.1111/j.1399-0004.1993.tb04431.x.
Abstract
A mosaic karyotype: 46,XY,del(18)(q21.3q22.2)/47,XY,del(18) (q21.3q22.2)+ marker, was found in a mentally retarded male with a mild form of the 18q- syndrome and aplasia of the right thumb. By fluorescent in situ hybridisation, the marker chromosome could be identified as a ring chromosome no. 18.
摘要
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