PMID- 12503111
OWN - NLM
STAT- MEDLINE
DCOM- 20030430
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 116A
IP  - 3
DP  - 2003 Jan 30
TI  - True hermaphroditism with ambiguous genitalia due to a complicated mosaic 
      karyotype: clinical features, cytogenetic findings, and literature review.
PG  - 300-3
AB  - Abnormal recombination between the X and Y chromosomes during meiosis, occurring 
      outside the pseudoautosomal region, can result in translocation of the SRY gene 
      from the Y to the X chromosome, and consequently in abnormal sexual 
      differentiation, such as the development of 46,XX males or true hermaphroditism. 
      In this report we present clinical, cytogenetic, and molecular-cytogenetic data 
      of a patient with ambiguous genitalia and true hermaphroditism, who had a unique 
      mosaic karyotype, comprising three different cell lines: 46,XX(SRY+), 45,X(SRY+), 
      and 45,X. The mosaic karyotype of our patient probably represents two different 
      events: abnormal recombination between the X and Y chromosomes during paternal 
      meiosis, and postzygotic loss of one of the X chromosomes. Replication studies 
      demonstrated that in 80% of the XX cells, the SRY sequence was located on the 
      active X chromosome. This finding suggests nonrandom X inactivation and, together 
      with the presence of the SRY gene, explains the male phenotype of our patient. On 
      the other hand, the presence of the 45,X cell line may have contributed to 
      genital ambiguity. We conclude that fluorescence in situ hybridization (FISH) 
      analysis with SRY probes is highly recommended and allows accurate diagnosis and 
      optimal management in cases of 46,XX hermaphroditism and ambiguous genitalia.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Modan-Moses, Dalit
AU  - Modan-Moses D
AD  - Pediatric Endocrinology Service, Chaim Sheba Medical Center, Tel-Hashomer, 
      Israel. dmodan@sheba.health.gov.il
FAU - Litmanovitch, Talia
AU  - Litmanovitch T
FAU - Rienstein, Shlomit
AU  - Rienstein S
FAU - Meyerovitch, Joseph
AU  - Meyerovitch J
FAU - Goldman, Boleslaw
AU  - Goldman B
FAU - Aviram-Goldring, Ayala
AU  - Aviram-Goldring A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Chromosomes, Human, X/genetics
MH  - Disorders of Sex Development/*genetics
MH  - Genitalia/*abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Mosaicism/*genetics
MH  - *Sex Chromosome Aberrations
MH  - Sex Determination Analysis
RF  - 16
EDAT- 2002/12/28 04:00
MHDA- 2003/05/06 05:00
CRDT- 2002/12/28 04:00
PHST- 2002/12/28 04:00 [pubmed]
PHST- 2003/05/06 05:00 [medline]
PHST- 2002/12/28 04:00 [entrez]
AID - 10.1002/ajmg.a.10869 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Jan 30;116A(3):300-3. doi: 10.1002/ajmg.a.10869.