PMID- 21078420
OWN - NLM
STAT- MEDLINE
DCOM- 20110804
LR  - 20110314
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 54
IP  - 2
DP  - 2011 Mar-Apr
TI  - Evidence of a mechanism for isodicentric chromosome Y formation in a 
      45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.
PG  - 161-4
LID - 10.1016/j.ejmg.2010.11.002 [doi]
AB  - Abnormalities involving sex chromosomes account for approximately 0.5% of live 
      births. The phenotypes of individuals with mosaic cell lines having structural 
      aberrations of the X and Y chromosomes are variable and hard to accurately 
      predict. Phenotypes associated with sex chromosome mosaicism range from Turner 
      syndrome to males with infertility, and often present with ambiguous genitalia. 
      Previous studies of individuals with an 45,X/46,X,idic(Y)(p11) karyotype suggest 
      that the presence of both cell lines should result from an intermediate, 46,XY 
      cell line. Here we report a 2.5 year old female with phenotypic features of 
      Turner syndrome with an isodicentric Y chromosome and a cell line with a deleted 
      Y with a final karyotype of 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31). 
      Fluorescence in situ hybridization (FISH) mapping of the Y chromosome breakpoint 
      revealed very low percentages of the deleted Y cells, but suggested a potential 
      mechanism for the formation of the isodicentric Y chromosome. To our knowledge, 
      the 46,X,del(Y) intermediate cell line in our patient has not been previously 
      reported in individuals with mosaic sex chromosome structural abnormalities.
CI  - Copyright (c) 2010 Elsevier Masson SAS. All rights reserved.
FAU - Reshmi, Shalini C
AU  - Reshmi SC
AD  - Department of Medicine, University of Chicago, Chicago, Illinois, USA.
FAU - Miller, Jennifer L
AU  - Miller JL
FAU - Deplewski, Dianne
AU  - Deplewski D
FAU - Close, Clare
AU  - Close C
FAU - Henderson, Leslie J
AU  - Henderson LJ
FAU - Littlejohn, Elizabeth
AU  - Littlejohn E
FAU - Schwartz, Stuart
AU  - Schwartz S
FAU - Waggoner, Darrel J
AU  - Waggoner DJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20101113
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Y/*genetics
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - *Mosaicism
MH  - *Sex Chromosome Aberrations
MH  - Turner Syndrome
EDAT- 2010/11/17 06:00
MHDA- 2011/08/05 06:00
CRDT- 2010/11/17 06:00
PHST- 2010/05/17 00:00 [received]
PHST- 2010/11/01 00:00 [accepted]
PHST- 2010/11/17 06:00 [entrez]
PHST- 2010/11/17 06:00 [pubmed]
PHST- 2011/08/05 06:00 [medline]
AID - S1769-7212(10)00134-5 [pii]
AID - 10.1016/j.ejmg.2010.11.002 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2011 Mar-Apr;54(2):161-4. doi: 10.1016/j.ejmg.2010.11.002. Epub 
      2010 Nov 13.