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Article

Immunodeficiency in patients with 49,XXXXY chromosomal variation.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Feb 2013

Keller Michael D, Sadeghin Teresa, Samango-Sprouse Carole, Orange Jordan S

Abstract excerpt

Boys affected with 49,XXXXY sex chromosomal variation have been described to have high incidence of recurrent otitis media and asthma, the cause of which is unknown. We hypothesized that primary immunodeficiency occurs in patients with XXXXY aneuploidy. To investigate this, 31 boys with known 49,XXXXY were evaluated through a multidisciplinary clinic. Screening history was performed using the "10 Warning Signs of...

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Share to Aneuploidy
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Hypersensitivity, Immediate

Share to Immunologic Deficiency Syndromes

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Share to Streptococcus pneumoniae

Source

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Identifiers

PMID: 23345259
DOI: 10.1002/ajmg.c.31348
PMCID: PMC4886306

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