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46,XY del(18) (q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q— syndrome
Author(s) -
MaaswinkelMooij P. D.,
Jong P.,
Beverstock G. C.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04431.x
Subject(s) - karyotype , ring chromosome , biology , genetics , aplasia , chromosome , chromosome 18 , microbiology and biotechnology , anatomy , gene
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.