A Sri Lankan child with 49,XXXXY syndrome.
Indian J Hum Genet
;
2010 Sept; 16(3): 164-165
Article
in English
| IMSEAR
| ID: sea-138918
ABSTRACT
Pentasomy 49,XXXXY is a rare sex chromosome disorder usually presenting with ambigous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. The incidence of the condition is estimated to be 1 in 85,000 male births. Previously, this condition was identified as a Klinefelter variant. The condition is suspected in a patient, by a combination of characteristic clinical findings, and the diagnosis is confirmed by chromosome culture and karyotyping. In the case we report here, the main presentation of ambiguous genitalia led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Parents
/
Sex Chromosome Aberrations
/
Sri Lanka
/
Humans
/
Male
/
Child
/
Sex Chromosome Disorders
/
Chromosomes, Human, X
/
Infant
/
Aneuploidy
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Hum Genet
Year:
2010
Type:
Article
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