A Sri Lankan child with 49,XXXXY syndrome.
Indian J Hum Genet
; 2010 Sept; 16(3): 164-165
Article
in En
| 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.
Key words
Full text:
1
Index:
IMSEAR
Main subject:
Parents
/
Sex Chromosome Aberrations
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Sri Lanka
/
Humans
/
Male
/
Child
/
Sex Chromosome Disorders
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Chromosomes, Human, X
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Infant
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Aneuploidy
Type of study:
Prognostic_studies
Country/Region as subject:
Asia
Language:
En
Journal:
Indian J Hum Genet
Year:
2010
Type:
Article