PMID- 12095512
OWN - NLM
STAT- MEDLINE
DCOM- 20020725
LR  - 20190707
IS  - 0015-0282 (Print)
IS  - 0015-0282 (Linking)
VI  - 78
IP  - 1
DP  - 2002 Jul
TI  - A comparative genomic hybridization study in a 46,XX male.
PG  - 186-8
AB  - OBJECTIVE: To identify Y chromosome material in an azoospermic male with an XX 
      karyotype. DESIGN: Case report. SETTING: Faculty of medicine and Centro de 
      Patologia Celular (CPC) medical center. PATIENT(S): A 33-year-old man with 
      infertility. INTERVENTION(S): G-banding, fluorescence in situ hybridization 
      (FISH), polymerase chain reaction (PCR), and comparative genomic hybridization 
      (CGH). MAIN OUTCOME MEASURE(S): FISH for X and Y chromosomes, PCR for the SRYgene 
      and amelogenin gene in the Xp (AMGX) and (AMGY), and losses or gains with CGH. 
      RESULT(S): FISH analysis using X and Y chromosome-specific probes showed an X 
      chromosome containing Y chromosome sequences on the top of the short arm; this Y 
      chromosome region was not visible by conventional cytogenetic analysis. PCR 
      amplification of DNA showed the presence of the sex-determining region of the Y 
      chromosome (SRY) and the amelogenin gene in the pseudoautosomal boundary of the X 
      chromosome (AMGX). CGH confirmed the presence of the chromosome region 
      Yp11.2-pter and detected the presence of the two otherwise normal X chromosomes. 
      CONCLUSION(S): The two Xpter (XPAR1) pseudoautosomal regions present in this XX 
      male suggest the need to reevaluate XX males using CGH and PCR to characterize 
      the clinical variability in XX males due to genes other than those located on the 
      Y chromosome.
FAU - Rigola, M Angels
AU  - Rigola MA
AD  - Unitat de Biologia, Departament de Biologia Cellular, Fisiologia i Immunologia, 
      Facultat de Medicina, Universitat Autonoma de Barcelona, Barcelona, Spain.
FAU - Carrera, Marta
AU  - Carrera M
FAU - Ribas, Isabel
AU  - Ribas I
FAU - Egozcue, Josep
AU  - Egozcue J
FAU - Miro, Rosa
AU  - Miro R
FAU - Fuster, Carme
AU  - Fuster C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
RN  - 0 (Amelogenin)
RN  - 0 (Dental Enamel Proteins)
SB  - IM
MH  - Adult
MH  - Amelogenin
MH  - Chromosome Mapping
MH  - Dental Enamel Proteins/genetics
MH  - Genes, sry/genetics
MH  - Gonadal Dysgenesis, 46,XX/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Nucleic Acid Hybridization
MH  - Polymerase Chain Reaction
MH  - X Chromosome/genetics
MH  - Y Chromosome/genetics
EDAT- 2002/07/04 10:00
MHDA- 2002/07/26 10:01
CRDT- 2002/07/04 10:00
PHST- 2002/07/04 10:00 [pubmed]
PHST- 2002/07/26 10:01 [medline]
PHST- 2002/07/04 10:00 [entrez]
AID - S0015028202031655 [pii]
AID - 10.1016/s0015-0282(02)03165-5 [doi]
PST - ppublish
SO  - Fertil Steril. 2002 Jul;78(1):186-8. doi: 10.1016/s0015-0282(02)03165-5.