Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis.
Singapore Med J
; 49(4): 349-51, 2008 Apr.
Article
in En
| MEDLINE
| ID: mdl-18418530
ABSTRACT
A two-year-and-eight-month-old girl presented with clitoromegaly and short stature. Two cell lines, 45,X and 46,X,idic(Y)(q11.2), were observed. Cytogenetic and fluorescence in situ hybridisation investigations were carried out on her peripheral lymphocytes and gonadal cells, to determine the genotype-phenotype effect with respect to differential tissue distribution, effects of the sex determining region of the Y chromosome, and the break-points in the azoospermia factor region.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Turner Syndrome
/
Chromosomes, Human, Y
/
Gonadal Dysgenesis, Mixed
/
Mosaicism
Type of study:
Diagnostic_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Singapore Med J
Year:
2008
Document type:
Article