PMID- 21851937
OWN - NLM
STAT- MEDLINE
DCOM- 20111215
LR  - 20111031
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 96
IP  - 5
DP  - 2011 Nov
TI  - De novo exceptional complex chromosomal rearrangement in a healthy fertile male: 
      case report and review of the literature.
PG  - 1160-4
LID - 10.1016/j.fertnstert.2011.07.1114 [doi]
AB  - OBJECTIVE: To report a de novo exceptional complex chromosomal rearrangement 
      (CCR) with four breakpoints in the male partner of a couple with recurrent 
      abortions. DESIGN: Case report and review of the literature. SETTING: Genetics 
      laboratory in a private hospital. PATIENT(S): A couple referred for recurrent 
      abortions. INTERVENTION(S): Cytogenetic and sperm fluorescence in situ 
      hybridization (FISH) techniques. MAIN OUTCOME MEASURE(S): Karyotype and FISH 
      sperm results. RESULT(S): The couple was phenotypically normal, with no family 
      history of miscarriage or infertility. Female karyotype was normal. Male 
      karyotype followed by FISH analysis showed a de novo CCR with four breakpoints: 
      t(5,13,16)(q11.1, q14.3, q12.2), ins(16;13)(q12.2;q?q14.2). ish 
      t(5;13;16)(wcp5+,wcp13+), ins(16;13)(wcp13+). CONCLUSION(S): Exceptional de novo 
      CCR male carriers with recurrent abortions are extremely rare. Patients with CCRs 
      have limited options to achieve a normal pregnancy. Careful consideration and 
      assessment should be provided upon counseling of couples with CCRs.
CI  - Copyright (c) 2011 American Society for Reproductive Medicine. Published by 
      Elsevier Inc. All rights reserved.
FAU - Farra, Chantal
AU  - Farra C
AD  - Department of Pathology and Laboratory Medicine, American University of Beirut 
      Medical Center, Beirut, Lebanon.
FAU - Singer, Sylke
AU  - Singer S
FAU - Dufke, Andreas
AU  - Dufke A
FAU - Ashkar, Hanine
AU  - Ashkar H
FAU - Monsef, Carla
AU  - Monsef C
FAU - Awwad, Johnny
AU  - Awwad J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Abortion, Habitual/*genetics/physiopathology
MH  - Adult
MH  - *Chromosome Aberrations
MH  - *Chromosome Breakpoints
MH  - *Chromosomes, Human, Pair 13
MH  - *Chromosomes, Human, Pair 16
MH  - *Chromosomes, Human, Pair 5
MH  - Female
MH  - Fertility/*genetics
MH  - *Gene Rearrangement
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Phenotype
MH  - Pregnancy
MH  - Pregnancy Trimester, First
EDAT- 2011/08/20 06:00
MHDA- 2011/12/16 06:00
CRDT- 2011/08/20 06:00
PHST- 2011/05/10 00:00 [received]
PHST- 2011/06/14 00:00 [revised]
PHST- 2011/07/20 00:00 [accepted]
PHST- 2011/08/20 06:00 [entrez]
PHST- 2011/08/20 06:00 [pubmed]
PHST- 2011/12/16 06:00 [medline]
AID - S0015-0282(11)02230-8 [pii]
AID - 10.1016/j.fertnstert.2011.07.1114 [doi]
PST - ppublish
SO  - Fertil Steril. 2011 Nov;96(5):1160-4. doi: 10.1016/j.fertnstert.2011.07.1114.