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Velocardiofacial syndrome in an unexplained XX male
Author(s) -
Phelan Mary C.,
Rogers R. Curtis,
Crawford Eric C.,
Brown Laura G.,
Page David C.
Publication year - 2002
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.10833
Subject(s) - testis determining factor , fluorescence in situ hybridization , chromosome , fish <actinopterygii> , biology , in situ hybridization , genetics , y chromosome , x chromosome , microbiology and biotechnology , gene , fishery , messenger rna
We report the unusual finding of velocardiofacial syndrome (VCF) in an unexplained 46,XX male. A microdeletion of 22q11.2 was confirmed by fluorescence in situ hybridization (FISH) analysis. Routine G‐banded chromosome analysis revealed an XX sex chromosome constitution. FISH was performed using the SRY probe and failed to detect hybridization. The sex chromosome status of the patient was further investigated by PCR testing to screen for the presence of 24 distinct loci spanning the Y chromosome. PCR screening failed to detect any apparent Y chromosome material. © 2002 Wiley‐Liss, Inc.