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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the or...

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the or...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c45cff0547904beb86b47c8556681b6d

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

About this item

Full title

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

Publisher

London: Nature Publishing Group UK

Journal title

Human genome variation, 2024-08, Vol.11 (1), p.31-5, Article 31

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjun...

Alternative Titles

Full title

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_c45cff0547904beb86b47c8556681b6d

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c45cff0547904beb86b47c8556681b6d

Other Identifiers

ISSN

2054-345X

E-ISSN

2054-345X

DOI

10.1038/s41439-024-00289-6

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