PMID- 18412126
OWN - NLM
STAT- MEDLINE
DCOM- 20080528
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 146A
IP  - 10
DP  - 2008 May 15
TI  - Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 
      1qter microdeletion.
PG  - 1335-40
LID - 10.1002/ajmg.a.32284 [doi]
AB  - Male individuals with a 46,XX karyotype have been designated as XX males. In 80% 
      of the cases, the presence of Yp sequences, including the male sex-determining 
      gene, SRY, has been demonstrated by molecular and/or fluorescence in situ 
      hybridization (FISH) analyses. In most cases, Yp sequences are located on the 
      short arm of the X chromosome, resulting from unequal recombination between Yp 
      and Xp during paternal meiosis. Much less frequent in XX males is the 
      localization of the SRY gene to an autosome. Here we report on the genetic 
      investigation of an atypical XX male in which the SRY gene was located at the end 
      of the long arm of chromosome 1. The patient, with a normal male phenotype, was 
      referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX 
      karyotype. Molecular-cytogenetics (FISH) and molecular (PCR and MLPA) studies 
      identified not only Yp-specific sequences located on the distal long arm of 
      chromosome 1 but also the deletion of the subtelomeric 1qter region. A specific 
      phenotype has been reported for a deletion of the 1qter region associated with 
      mental retardation. The molecular investigation of the 1qter region showed that 
      in our patient the microdeletion is more telomeric than in patients reported with 
      mental retardation. To our knowledge, this is the first report of a XX male with 
      the Yp region transferred to the terminal long arm of chromosome 1. This is also 
      the first microdeletion of the subtelomeric 1qter region not associated with 
      mental retardation.
CI  - 2008 Wiley-Liss, Inc.
FAU - Queralt, Rosa
AU  - Queralt R
AD  - Servei de Bioquimica i Genetica Molecular, Hospital Clinic, Barcelona, Spain.
FAU - Madrigal, Irene
AU  - Madrigal I
FAU - Vallecillos, M Angeles
AU  - Vallecillos MA
FAU - Morales, Carme
AU  - Morales C
FAU - Ballesca, Jose-Luis
AU  - Ballesca JL
FAU - Oliva, Rafael
AU  - Oliva R
FAU - Soler, Anna
AU  - Soler A
FAU - Sanchez, Aurora
AU  - Sanchez A
FAU - Margarit, Ester
AU  - Margarit E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
SB  - IM
MH  - Adult
MH  - Azoospermia/*genetics
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Gonadal Dysgenesis, 46,XX/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Nucleic Acid Amplification Techniques/methods
MH  - Polymerase Chain Reaction/methods
MH  - Sex-Determining Region Y Protein/*genetics
MH  - Telomere
EDAT- 2008/04/17 09:00
MHDA- 2008/05/29 09:00
CRDT- 2008/04/17 09:00
PHST- 2008/04/17 09:00 [pubmed]
PHST- 2008/05/29 09:00 [medline]
PHST- 2008/04/17 09:00 [entrez]
AID - 10.1002/ajmg.a.32284 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2008 May 15;146A(10):1335-40. doi: 10.1002/ajmg.a.32284.