PMID- 9714008
OWN - NLM
STAT- MEDLINE
DCOM- 19981026
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 78
IP  - 5
DP  - 1998 Aug 6
TI  - 45,X/46,X,idic(Yq) mosaicism: clinical, cytogenetic, and molecular studies in 
      four individuals.
PG  - 424-8
AB  - 45,X/46,X,idic(Yq) mosaicism is associated with a variety of sex phenotypes, 
      including Ullrich-Turner syndrome (UTS), intersexuality, and complete male. It 
      remains unclear whether the phenotypic variability results from a dilutional 
      effect by the 45,X cell line in the primordial gonad or an abnormality of the SRY 
      gene (SRY). We conducted cytogenetic and molecular studies on four patients with 
      such mosaicism, two of whom had a complete male phenotype and two who had UTS. 
      Chromosome analyses showed that the frequency of cells carrying an idic(Yq) 
      chromosome in peripheral blood lymphocytes and skin fibroblasts was not related 
      to the given sex phenotype. The SRY, PABY, and ZFY genes were present in all four 
      patients. A fluorescence in situ hybridization (FISH) study showed that both a 
      patient with a complete male phenotype and another with UTS had duplicate copies 
      of SRY in their idic(Yq) chromosomes, whereas a patient with UTS had a single 
      copy of the gene. These findings suggested that the coexisting 45,X cell line is 
      more influential on the determination of the sex phenotype in individuals with 
      45,X/ 46,X,idic(Yq) mosaicism.
FAU - Teraoka, M
AU  - Teraoka M
AD  - Department of Pediatrics, Okayama University Medical School, Japan.
FAU - Narahara, K
AU  - Narahara K
FAU - Yokoyama, Y
AU  - Yokoyama Y
FAU - Tsuji, K
AU  - Tsuji K
FAU - Kikkawa, K
AU  - Kikkawa K
FAU - Ito, S
AU  - Ito S
FAU - Koyama, K
AU  - Koyama K
FAU - Seino, Y
AU  - Seino Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DAZ1 protein, human)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Deleted in Azoospermia 1 Protein)
RN  - 0 (Kruppel-Like Transcription Factors)
RN  - 0 (Nuclear Proteins)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
RN  - 0 (Transcription Factors)
RN  - 0 (ZFY protein, human)
RN  - 0 (zinc finger protein, X-linked)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Cells, Cultured
MH  - DNA-Binding Proteins/genetics
MH  - Deleted in Azoospermia 1 Protein
MH  - Female
MH  - *Gene Dosage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Kruppel-Like Transcription Factors
MH  - Male
MH  - Mosaicism/*genetics
MH  - *Nuclear Proteins
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - RNA-Binding Proteins/genetics
MH  - Sex Chromosome Aberrations/*genetics
MH  - Sex Determination Processes
MH  - Sex-Determining Region Y Protein
MH  - Sister Chromatid Exchange
MH  - *Transcription Factors
MH  - X Chromosome/*genetics
EDAT- 1998/08/26 02:24
MHDA- 2000/06/20 09:00
CRDT- 1998/08/26 02:24
PHST- 1998/08/26 02:24 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/08/26 02:24 [entrez]
AID - 10.1002/(SICI)1096-8628(19980806)78:5<424::AID-AJMG6>3.0.CO;2-L [pii]
AID - 10.1002/(sici)1096-8628(19980806)78:5<424::aid-ajmg6>3.0.co;2-l [doi]
PST - ppublish
SO  - Am J Med Genet. 1998 Aug 6;78(5):424-8. doi: 
      10.1002/(sici)1096-8628(19980806)78:5<424::aid-ajmg6>3.0.co;2-l.