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The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald-McGinn DM,
Kirschner R,
Goldmuntz E,
Sullivan K,
Eicher P,
Gerdes M,
Moss E,
Solot C,
Wang P,
Jacobs I,
Handler S,
Knightly C,
Heher K,
Wilson M,
Ming JE,
Grace K,
Driscoll D,
Pasquariello P,
Randall P,
Larossa D,
Emanuel BS,
Zackai EH.
Division of Human Genetics and molecular Biology, Children's Hospital of Philadelphia, Pennsylvania, USA.
A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.
PMID: 10191425 [PubMed - indexed for MEDLINE]
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Cited by 6 PubMed Central articles
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ReviewAdults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, et al.
Genet Med. 2008 Jul; 10(7):469-94.
[Genet Med. 2008]
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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, et al.
Am J Hum Genet. 2008 Jan; 82(1):214-21.
[Am J Hum Genet. 2008]
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Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment.
Deboer T, Wu Z, Lee A, Simon TJ.
Behav Brain Funct. 2007 Oct 23; 3:54. Epub 2007 Oct 23.
[Behav Brain Funct. 2007]
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