PMID- 16769064
OWN - NLM
STAT- MEDLINE
DCOM- 20060816
LR  - 20061115
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 86
IP  - 2
DP  - 2006 Aug
TI  - An XX male with the sex-determining region Y gene inserted in the long arm of 
      chromosome 16.
PG  - 463.e1-5
AB  - OBJECTIVE: To report a case of a 46,XX male with an insertion of the 
      sex-determining region Y (SRY) region in the terminal end of the long arm of 
      chromosome 16. DESIGN: Case report. SETTING: Molecular and cytogenetic units in a 
      university hospital. PATIENT(S): An infertile male, with normal masculinization 
      of the external genitalia, who was referred for chromosomal analysis as an 
      unaffected member of a family with idiopathic hypertrophic osteoarthropathy. 
      INTERVENTION(S): Cytogenetic investigation, physical examination, and hormonal 
      assays. MAIN OUTCOME MEASURE(S): Chromosomal analysis using GTG banding and 
      fluorescence in situ hybridization (FISH). RESULT(S): Conventional chromosome 
      analysis revealed a normal 46,XX karyotype. The FISH with bacterial artificial 
      chromosomes (BACs) of the SRY region indicated the presence of this region on the 
      terminal end of the long arm of chromosome 16. CONCLUSION(S): This is the first 
      case of a 46,XX male with the SRY gene present on an autosome-here chromosome 16. 
      The size of the inserted region containing SRY, inserted in 16qter, is 
      approximately 600 kb.
FAU - Dauwerse, Johannnes G
AU  - Dauwerse JG
AD  - Center for Human Clinical Genetics, Leiden University Medical Center, 
      Albinusdreef 2, 2333 AL Leiden, The Netherlands. dauw@lumc.nl
FAU - Hansson, Kerstin B M
AU  - Hansson KB
FAU - Brouwers, Ad A M
AU  - Brouwers AA
FAU - Peters, Dorien J M
AU  - Peters DJ
FAU - Breuning, Martijn H
AU  - Breuning MH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060612
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
RN  - 0 (DNA Transposable Elements)
RN  - 0 (Sex-Determining Region Y Protein)
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Bacterial
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Cytogenetic Analysis
MH  - *DNA Transposable Elements
MH  - Gonadal Dysgenesis, 46,XX/complications/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/etiology
MH  - Male
MH  - Middle Aged
MH  - Sex-Determining Region Y Protein/*genetics
EDAT- 2006/06/14 09:00
MHDA- 2006/08/17 09:00
CRDT- 2006/06/14 09:00
PHST- 2005/09/27 00:00 [received]
PHST- 2005/12/22 00:00 [revised]
PHST- 2005/12/22 00:00 [accepted]
PHST- 2006/06/14 09:00 [pubmed]
PHST- 2006/08/17 09:00 [medline]
PHST- 2006/06/14 09:00 [entrez]
AID - S0015-0282(06)00677-7 [pii]
AID - 10.1016/j.fertnstert.2005.12.062 [doi]
PST - ppublish
SO  - Fertil Steril. 2006 Aug;86(2):463.e1-5. doi: 10.1016/j.fertnstert.2005.12.062. 
      Epub 2006 Jun 12.