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Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1)
Author(s) -
Hiraki Yoko,
Fujita Hiroko,
Yamamori Shunji,
Ohashi Hirofumi,
Eguchi Maki,
Harada Naoki,
Mizuguchi Takeshi,
Matsumoto Naomichi
Publication year - 2006
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.31364
Subject(s) - chromosomal translocation , craniosynostosis , trisomy , fluorescence in situ hybridization , biology , telomere , genetics , chromosome , gene
We report on a 20‐year‐old man and a 16‐year‐old woman with a chromosomal imbalance derived from a balanced translocation, t(Y;1)(q12;p36.3) of the father. The man had a partial trisomy for 1p36.3‐pter [46,X,der(Y)t(Y:1)(q12;p36.3)] and mild craniosynostosis of metopic and sagittal sutures as well as a borderline mental impairment, while the woman with a deletion for 1p36.3‐pter [46,XX,der(1)t(Y;1)(q12;p36.3)] showed dysmorphic face with large anterior fontanel and severe developmental delay. Fluorescence in situ hybridization (FISH) showed that his trisomy spanned the 5.3‐Mb region from 1p telomere harboring the critical region for craniosynostosis. To our knowledge, the man is the first case of a pure type of simple 1p36.3 trisomy as the effect of heterochromatic Yq12‐qter deletion likely does not affect phenotype. © 2006 Wiley‐Liss, Inc.