PMID- 16892409
OWN - NLM
STAT- MEDLINE
DCOM- 20061019
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140A
IP  - 17
DP  - 2006 Sep 1
TI  - Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) 
      mosaicism: importance of the relative proportion of the 45,X line in gonadal 
      tissue.
PG  - 1871-5
AB  - We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs 
      of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except 
      for a reduced growth rate. After prophylactic gonadectomy due to the risk of 
      developing gonadoblastoma, the gonads and peripheral blood samples were analyzed 
      by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) 
      to detect Y-specific sequences. These analyses allowed us to characterize the 
      Y-derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed 
      a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism 
      between the two analyzed tissues. It was shown that, although in peripheral blood 
      almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY 
      gene, this did not determine any degree of male sexual differentiation in the 
      patient, as in the gonads the predominant cell line was 45,X (60%).
FAU - Guedes, Alexis D
AU  - Guedes AD
AD  - Discipline of Endocrinology, Department of Medicine, Federal University of Sao 
      Paulo, Sao Paulo, Brazil.
FAU - Bianco, Bianca
AU  - Bianco B
FAU - Lipay, Monica V N
AU  - Lipay MV
FAU - Brunoni, Decio
AU  - Brunoni D
FAU - de Lourdes Chauffaille, Maria
AU  - de Lourdes Chauffaille M
FAU - Verreschi, Ieda T N
AU  - Verreschi IT
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child, Preschool
MH  - *Chromosomes, Human, X
MH  - *Chromosomes, Human, Y
MH  - Female
MH  - Gonadal Dysgenesis/diagnosis/*genetics
MH  - Gonads/*chemistry/cytology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Mosaicism
MH  - Phenotype
MH  - *Sex Chromosome Aberrations
MH  - Sex Determination Processes
EDAT- 2006/08/08 09:00
MHDA- 2006/10/20 09:00
CRDT- 2006/08/08 09:00
PHST- 2006/08/08 09:00 [pubmed]
PHST- 2006/10/20 09:00 [medline]
PHST- 2006/08/08 09:00 [entrez]
AID - 10.1002/ajmg.a.31363 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Sep 1;140A(17):1871-5. doi: 10.1002/ajmg.a.31363.