PMID- 18304539
OWN - NLM
STAT- MEDLINE
DCOM- 20081114
LR  - 20081020
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 90
IP  - 4
DP  - 2008 Oct
TI  - Characterization of a de novo unbalanced Y;autosome translocation in a 45,X 
      mentally retarded male and literature review.
PG  - 1198.e11-8
LID - 10.1016/j.fertnstert.2007.11.065 [doi]
AB  - OBJECTIVE: To describe the molecular and cytogenetic characterization of a de 
      novo unbalanced Y;autosome translocation in a 45,X mentally retarded male. 
      DESIGN: Descriptive case study and literature review. SETTING: Tertiary medical 
      center. PATIENT(S): A 17-year-old 45,X mentally retarded male with no stigmata of 
      Turner syndrome. INTERVENTION(S): Molecular and cytogenetic investigations, 
      physical examination, and hormonal assays. MAIN OUTCOME MEASURE(S): Cytogenetic 
      analysis, fluorescence in situ hybridization (FISH), array comparative genomic 
      hybridization (CGH), and polymorphic DNA marker analysis. RESULT(S): The FISH 
      showed a Y/18p translocation. Array CGH revealed a loss of distal chromosome 18p 
      material and a loss of part of Yq material corresponding to deletions of 
      chromosomal segments of 18pter-->18p11.2 and Yq11.221-->Yqter. Polymorphic DNA 
      markers analysis showed that the X chromosome was of maternal origin and the 
      deletion of 18p was of paternal origin. CONCLUSION(S): This study confirms the 
      usefulness of array CGH in the detection of subtle chromosomal rearrangements 
      resulting in an unbalanced Y;autosome translocation.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan. cpc_mmh@yahoo.com
FAU - Lin, Shuan-Pei
AU  - Lin SP
FAU - Tsai, Fuu-Jen
AU  - Tsai FJ
FAU - Wang, Tzu-Hao
AU  - Wang TH
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20080304
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adolescent
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, X/*genetics
MH  - Chromosomes, Human, Y/*genetics
MH  - Genetic Diseases, Y-Linked/*genetics
MH  - Humans
MH  - Male
MH  - Mental Retardation, X-Linked/*genetics
MH  - Translocation, Genetic/*genetics
RF  - 45
EDAT- 2008/02/29 09:00
MHDA- 2008/11/15 09:00
CRDT- 2008/02/29 09:00
PHST- 2007/03/16 00:00 [received]
PHST- 2007/11/19 00:00 [revised]
PHST- 2007/11/19 00:00 [accepted]
PHST- 2008/02/29 09:00 [pubmed]
PHST- 2008/11/15 09:00 [medline]
PHST- 2008/02/29 09:00 [entrez]
AID - S0015-0282(07)04131-3 [pii]
AID - 10.1016/j.fertnstert.2007.11.065 [doi]
PST - ppublish
SO  - Fertil Steril. 2008 Oct;90(4):1198.e11-8. doi: 10.1016/j.fertnstert.2007.11.065. 
      Epub 2008 Mar 4.