PMID- 15136108
OWN - NLM
STAT- MEDLINE
DCOM- 20040624
LR  - 20220311
IS  - 0015-0282 (Print)
IS  - 0015-0282 (Linking)
VI  - 81
IP  - 5
DP  - 2004 May
TI  - Molecular and cytogenetic characterization of a structural rearrangement of the Y 
      chromosome in an azoospermic man.
PG  - 1388-90
AB  - OBJECTIVE: To better define an abnormal karyotype found in a male with primary 
      infertility. DESIGN: Case report. SETTING: Molecular and cytogenetics unit in a 
      university-affiliated hospital. PATIENT(S): A 41-year-old, azoospermic, but 
      otherwise healthy male. INTERVENTION(S): Lymphocytic karyotype and genetic 
      counseling. MAIN OUTCOME MEASURE(S): Metaphases were studied by standard G- and 
      Q-banding, followed by fluorescence in situ hybridization (FISH) and polymerase 
      chain reaction to analyze specific Y chromosome regions. RESULT(S): Chromosomal 
      analysis and FISH allowed us to define the propositus's karyotype as 
      45,X/46,X,idic(Yp)/46,XY (71%, 26%, and 3% of analyzed metaphases, respectively). 
      Molecular analysis of azoospermic factor (AZF) regions showed deletion of AZFb 
      and AZFc. CONCLUSION(S): A 45,X/46,X,idic(Yp) mosaicism is associated with a very 
      broad spectrum of phenotypes, including patients with Ullrich-Turner syndrome, 
      patients with various degrees of genital ambiguity, or normal males. In the 
      presence of a normal masculinization in otherwise healthy males azoospermia is a 
      distinct feature that can be explained by partial deletion of AZF regions.
FAU - Valetto, Angelo
AU  - Valetto A
AD  - Azienda Ospedaliera Universitaria Pisana, Pisa, Italy.
FAU - Bertini, Veronica
AU  - Bertini V
FAU - Rapalini, Erika
AU  - Rapalini E
FAU - Baldinotti, Fulvia
AU  - Baldinotti F
FAU - Di Martino, Daniela
AU  - Di Martino D
FAU - Simi, Paolo
AU  - Simi P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adult
MH  - Chromosome Deletion
MH  - *Chromosomes, Human, Y
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Oligospermia/*genetics
MH  - *Sex Chromosome Aberrations
EDAT- 2004/05/12 05:00
MHDA- 2004/06/25 05:00
CRDT- 2004/05/12 05:00
PHST- 2003/06/09 00:00 [received]
PHST- 2003/09/30 00:00 [revised]
PHST- 2003/09/30 00:00 [accepted]
PHST- 2004/05/12 05:00 [pubmed]
PHST- 2004/06/25 05:00 [medline]
PHST- 2004/05/12 05:00 [entrez]
AID - S0015028204001463 [pii]
AID - 10.1016/j.fertnstert.2003.09.069 [doi]
PST - ppublish
SO  - Fertil Steril. 2004 May;81(5):1388-90. doi: 10.1016/j.fertnstert.2003.09.069.