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Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers
Author(s) -
Engelen J.J.M.,
Arens Y.H.J.M.,
Gondrie E.T.C.M.,
Alofs M.G.P.,
Loneus W.H.,
Hamers A.J.H.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10203
Subject(s) - karyotype , chromosome , chromosomal translocation , biology , derivative chromosome , y chromosome , genetics , marker chromosome , subtelomere , microbiology and biotechnology , gene
Chromosome analysis in a couple referred because of two spontaneous abortions showed a normal 46,XX karyotype in the 28‐year‐old female and an aberrant Y chromosome with an enlarged short arm in the 30‐year‐old male. Subsequent chromosome analysis showed that his 33‐year‐old brother was carrier of the same Y chromosome aberration. Further characterization of the aberrant Y chromosome with FISH using probes specific for chromosome bands Yp11.32, Yq11.2, the centromere and the subtelomeric region of the p‐arm of the Y chromosome showed that chromosome band Yq11.2 was duplicated and inserted in the p‐arm of the Y chromosome. Combining the results of the analysis of GTG‐banded chromosomes and of the FISH analysis we conclude that both patients have a 46,X,ins dup(Y)(pter → p11.23::q12 → q11.1::p11.23 →) karyotype. The clinical and cytogenetical findings are reported and discussed. © 2003 Wiley‐Liss, Inc.