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PMID: 18268261 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Recognizing a common genetic syndrome: 22q11.2 deletion syndrome.

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne ·Vol. 178 ·No. 4 ·2008-02-12 ·Pages 391-3

Kapadia RK, Bassett AS

Abstract

暂无摘要

MeSH Terms

Adult Chromosome Deletion Chromosomes, Human, Pair 22/genetics DiGeorge Syndrome/diagnosis,genetics Diagnosis, Differential Female Follow-Up Studies Genetic Counseling/methods Humans In Situ Hybridization, Fluorescence

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Kapadia Ronak K

Faculty of Medicine, Dalhousie University, Halifax, NS.

Bassett Anne S

References (4)

4 references, click to expand

22q11 deletion syndrome: a genetic subtype of schizophrenia.
Biol Psychiatry. 1999 Oct 1;46(7):882-91 PMID: 10509171
Presenting phenotype in 100 children with the 22q11 deletion syndrome.
Eur J Pediatr. 2005 Mar;164(3):146-53 PMID: 15565286
Clinical features of 78 adults with 22q11 Deletion Syndrome.
Am J Med Genet A. 2005 Nov 1;138(4):307-13 PMID: 16208694
Deletion 22q11: spectrum of associated disorders.
Semin Pediatr Neurol. 2007 Sep;14(3):136-9 PMID: 17980310

Article Info

Journal

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne

Abbr.

CMAJ

ISSN

1488-2329

DOI

10.1503/cmaj.071300

Published

2008-02-12

Pages

391-3

Language

English

Region

Canada

NLM ID

9711805

PMCID

PMC2228345

Subset

External Links

PubMed source DOI: 10.1503/cmaj.071300 PMC Full Text View journal details

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Recognizing a common genetic syndrome: 22q11.2 deletion syndrome.

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