PMID- 12818532
OWN - NLM
STAT- MEDLINE
DCOM- 20040220
LR  - 20191107
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 46
IP  - 1
DP  - 2003 Jan-Mar
TI  - True hermaphroditism with 46,X,+22p/46,XY and gonadal mosaicism detected by 
      fluorescence in situ hybridization.
PG  - 57-60
AB  - A Japanese girl was diagnosed as true hermaphroditism with 46,X,+mar/46,XY and 
      the marker chromosome was determined on the short arm of chromosome 22 without 
      alpha-satellite by fluorescence in situ hybridization (FISH) and spectral 
      karyotyping (SKY) methods. At birth, she showed intersexual external genitalia, 
      urethral-vaginal fistula and right inguinal hernia. The right gonad was revealed 
      as an ovotestis, and the left was as an undifferentiated testis. The gonadal 
      mosaicism was demonstrated directly in gonadal tissue by interphase FISH.
FAU - Takano, Takako
AU  - Takano T
AD  - Department of Hygiene and Public Health, Teikyo University School of Medicine, 
      2-11-1 Kaga, Itabashi-ku, 173-8605, Tokyo, Japan. takako@med.teikyo-u.ac.jp 
      <takako@med.teikyo-u.ac.jp>
FAU - Yamanouchi, Yasuko
AU  - Yamanouchi Y
FAU - Tanaka, Fumihiko
AU  - Tanaka F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
SB  - IM
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 22
MH  - Disorders of Sex Development/*genetics
MH  - Female
MH  - Gonadal Dysgenesis, Mixed/*genetics
MH  - Gonads/ultrastructure
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mosaicism
MH  - Spectral Karyotyping
EDAT- 2003/06/24 05:00
MHDA- 2004/02/21 05:00
CRDT- 2003/06/24 05:00
PHST- 2003/06/24 05:00 [pubmed]
PHST- 2004/02/21 05:00 [medline]
PHST- 2003/06/24 05:00 [entrez]
AID - S000339950300008X [pii]
AID - 10.1016/s0003-3995(03)00008-x [doi]
PST - ppublish
SO  - Ann Genet. 2003 Jan-Mar;46(1):57-60. doi: 10.1016/s0003-3995(03)00008-x.