PMID- 17561477
OWN - NLM
STAT- MEDLINE
DCOM- 20070731
LR  - 20161013
IS  - 0929-6646 (Print)
IS  - 0929-6646 (Linking)
VI  - 106
IP  - 5
DP  - 2007 May
TI  - Delineation of an isodicentric Y chromosome in a mosaic 
      45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by SRY sequencing, G-banding, 
      FISH, SKY and study of distribution in different tissues.
PG  - 403-10
AB  - Many factors such as genetic, developmental and hormonal are involved in 
      mammalian sex determination. The relative importance and the mutual interactions 
      among those factors are obscure. Study of cytogenetic mosaicism involving sex 
      chromosomes may help to further unravel the mysterious process. We report a fetus 
      with a mosaic karyotype, 45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter), with 
      unambiguous male external genitalia and a defect in the interventricular septum 
      of the heart. Genotype of this fetus was extensively studied by technologies 
      including sequencing of SRY (sex-determining region on the Y chromosome) gene, 
      G-banding, FISH (fluorescence in situ hybridization) and SKY (spectral 
      karyotyping). A markedly higher percentage of Y-containing cells was observed in 
      the gonads (55%) than in the amniotic fluid (17%) and placental villi (11%), 
      which was considered to be the major reason why the fetus did not have ambiguous 
      genitalia.
FAU - Wu, Hsuan-Hsuan
AU  - Wu HH
AD  - Center for Health Promotion and Department of Family Medicine, Changhua Christian 
      Hospital, Changhua, and Department of Obstetrics and Gynecology, College of 
      Medicine, Taipei, Taiwan.
FAU - Lee, Tsung-Hsien
AU  - Lee TH
FAU - Chen, Chin-Der
AU  - Chen CD
FAU - Yeh, Kun-Tu
AU  - Yeh KT
FAU - Chen, Ming
AU  - Chen M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Singapore
TA  - J Formos Med Assoc
JT  - Journal of the Formosan Medical Association = Taiwan yi zhi
JID - 9214933
RN  - 0 (Sex-Determining Region Y Protein)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Amniotic Fluid/cytology
MH  - Chorionic Villi
MH  - Chromosome Banding
MH  - Chromosomes, Human, X/*genetics
MH  - Chromosomes, Human, Y/*genetics
MH  - Female
MH  - Fetus
MH  - Genes, sry
MH  - Gonads/cytology
MH  - Heart Septal Defects, Ventricular/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Isochromosomes
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - Sex-Determining Region Y Protein/*genetics
MH  - Spectral Karyotyping
EDAT- 2007/06/15 09:00
MHDA- 2007/08/01 09:00
CRDT- 2007/06/15 09:00
PHST- 2007/06/15 09:00 [pubmed]
PHST- 2007/08/01 09:00 [medline]
PHST- 2007/06/15 09:00 [entrez]
AID - S0929-6646(09)60327-2 [pii]
AID - 10.1016/S0929-6646(09)60327-2 [doi]
PST - ppublish
SO  - J Formos Med Assoc. 2007 May;106(5):403-10. doi: 10.1016/S0929-6646(09)60327-2.