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A Sri Lankan child with 49, XXXXY syndrome

A Sri Lankan child with 49, XXXXY syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3009429

A Sri Lankan child with 49, XXXXY syndrome

About this item

Full title

A Sri Lankan child with 49, XXXXY syndrome

Publisher

India: Medknow Publications and Media Pvt. Ltd

Journal title

Indian journal of human genetics, 2010-09, Vol.16 (3), p.164-165

Language

English

Formats

Publication information

Publisher

India: Medknow Publications and Media Pvt. Ltd

More information

Scope and Contents

Contents

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 con...

Alternative Titles

Full title

A Sri Lankan child with 49, XXXXY syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3009429

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3009429

Other Identifiers

ISSN

0971-6866

E-ISSN

1998-362X

DOI

10.4103/0971-6866.73413

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