PMID- 12476456
OWN - NLM
STAT- MEDLINE
DCOM- 20030530
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 116A
IP  - 1
DP  - 2003 Jan 1
TI  - Velocardiofacial syndrome in an unexplained XX male.
PG  - 77-9
AB  - 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.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Phelan, Mary C
AU  - Phelan MC
AD  - Genetic Diagnostic Laboratory, T.C. Thompson Children's Hospital, Chattanooga, 
      Tennessee 37403, USA. phelank@erlanger.org
FAU - Rogers, R Curtis
AU  - Rogers RC
FAU - Crawford, Eric C
AU  - Crawford EC
FAU - Brown, Laura G
AU  - Brown LG
FAU - Page, David C
AU  - Page DC
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Chromosomes, Human, Y/*genetics
MH  - Cleft Palate/pathology
MH  - *Disorders of Sex Development
MH  - Face/*abnormalities
MH  - Heart Defects, Congenital/*pathology
MH  - Humans
MH  - Male
MH  - *Sex Chromosome Aberrations
MH  - Syndrome
EDAT- 2002/12/12 04:00
MHDA- 2003/05/31 05:00
CRDT- 2002/12/12 04:00
PHST- 2002/12/12 04:00 [pubmed]
PHST- 2003/05/31 05:00 [medline]
PHST- 2002/12/12 04:00 [entrez]
AID - 10.1002/ajmg.a.10833 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Jan 1;116A(1):77-9. doi: 10.1002/ajmg.a.10833.