PMID- 11477609
OWN - NLM
STAT- MEDLINE
DCOM- 20010816
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 102
IP  - 2
DP  - 2001 Aug 1
TI  - Sex chromosome mosaicism in gonads of a fetus with cystic hygroma and deletion of 
      the short arm of Y chromosome including loss of SRY.
PG  - 157-60
AB  - The SRY gene on the short arm of the Y chromosome is necessary for male 
      development. Without SRY, patients with 46,XY karyotype develop as females, fail 
      to achieve normal puberty and have dysgenic gonads and a high incidence of 
      gonadoblastoma. Here we report a female fetus, aborted at 17 weeks of pregnancy, 
      with a non-mosaic 46,X,del(Y)(p11.2).ish del(Y)(SRY-) karyotype diagnosed by 
      classical cytogenetics and fluorescence in situ hybridization (FISH). Ovarian 
      tissue was full of oocytes and mitotic figures. FISH studies of ovarian tissues 
      with X and Y centromere probes revealed extensive sex chromosome mosaicism, 
      manifested by loss of the Y chromosome and polysomy of the X chromosome. We 
      propose that X chromosome polysomy is a post-zygotic event that arises to 
      facilitate gonadal differentiation in the absence of all factors necessary for 
      normal gonadal development.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Aviv, H
AU  - Aviv H
AD  - Center for Human and Molecular Genetics, UMDNJ-New Jersey Medical School, Newark, 
      New Jersey 07103, USA. avivha@umdnj.edu
FAU - Heller, D
AU  - Heller D
FAU - Fajardo, A
AU  - Fajardo A
FAU - Hoot, A
AU  - Hoot A
FAU - Mavaro, L
AU  - Mavaro L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Abortion, Induced
MH  - Adult
MH  - *Chromosome Deletion
MH  - DNA-Binding Proteins/*genetics
MH  - Fatal Outcome
MH  - Female
MH  - Fetal Death
MH  - Fetus
MH  - Gonads/*metabolism
MH  - Humans
MH  - Karyotyping
MH  - Lymphangioma, Cystic/*pathology
MH  - Mosaicism
MH  - *Nuclear Proteins
MH  - Pregnancy
MH  - *Sex Chromosome Aberrations
MH  - Sex-Determining Region Y Protein
MH  - *Transcription Factors
MH  - X Chromosome/genetics
MH  - Y Chromosome/*genetics
EDAT- 2001/07/31 10:00
MHDA- 2001/08/17 10:01
CRDT- 2001/07/31 10:00
PHST- 2001/07/31 10:00 [pubmed]
PHST- 2001/08/17 10:01 [medline]
PHST- 2001/07/31 10:00 [entrez]
AID - 10.1002/ajmg.1414 [pii]
AID - 10.1002/ajmg.1414 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Aug 1;102(2):157-60. doi: 10.1002/ajmg.1414.