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Article

Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features

8 Sept 2005

Abstract excerpt

We report on segmental and full paternal isodisomy for chromosome 14 in three previously unreported Japanese patients. Patient 1 was a 5(6/12)-year-old girl, Patient 2 was a male neonate, and Patient 3 was a -year-old girl. Physical examination at birth showed various somatic features characteristic of paternal uniparental disomy for chromosome 14 (upd(14)pat) such as hairy forehead, protruding philtrum,...

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Share to Genetic Syndromes and Imprinting
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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Identifiers

PMID: 16152632
DOI: 10.1002/ajmg.a.30941

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