A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q-Reference-Cited by-同舟云学术

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A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q

Published:2003 Issue:3 Volume:124A Page:303-306
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dawson A.J.,Wickstrom D.E.,Riordan D.,Cardwell S.,Casey R.,Baldry S.,Brown C.

Publisher

Wiley

Subject

Genetics (clinical)

Reference10 articles.

1. Confirmation of proximal 1q duplication using fluorescence in situ hybridization

2. Proximal trisomy 1q in a girl with developmental delay and minor anomalies

3. Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 (46,XX,dir dup (1) (q12→q23)/46,XX)

4. Tandem duplication (1) (q11 → q22) in a male infant with multiple congenital malformations

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