LymphedemaV1, Main, Exploration, bibRecord, 002783

Neural Tube Defects and Atypical Deletion on 22q11.2

Identifieur interne : 002783 ( Main/Exploration ); précédent : 002782; suivant : 002784

Neural Tube Defects and Atypical Deletion on 22q11.2

Auteurs : Chiara Leoni [Italie, États-Unis] ; David A. Stevenson [États-Unis] ; Katherine B. Geiersbach [États-Unis] ; Christian N. Paxton [États-Unis] ; Bryan L. Krock [États-Unis] ; Rong Mao [États-Unis] ; Alan F. Rope [États-Unis]

Source :

American journal of medical genetics. Part A [ 1552-4825 ] ; 2014.

RBID : PMC:4205263

Abstract

The 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion disorder. Most of the patients show the common 3 Mb deletion but proximal 1.5 Mb deletion and unusual deletions located outside the common deleted region, have been detected particularly with the advance of comparative cytogenomic microarray technologies. The individuals reported in the literature with unusual deletions involving the 22q11 region, showed milder facial phenotypes, decreased incidence of cardiac anomalies and intellectual disability. We describe two sibs with an atypical 0.8 Mb microdeletion of chromosome 22q11 who both showed myelomeningocele and mild facial dysmorphisms. The association between neural tube defect and the clinical diagnosis of Di George anomaly/velocardiofacial syndrome is well documented in the literature, but not all cases had molecular studies to determine breakpoint regions. This report helps to narrow a potential critical region for neural tube defects associated with 22q11 deletions.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205263

DOI: 10.1002/ajmg.a.36701
PubMed: 25123577
PubMed Central: 4205263

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en"><p id="P1">The 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion disorder. Most of the patients show the common 3 Mb deletion but proximal 1.5 Mb deletion and unusual deletions located outside the common deleted region, have been detected particularly with the advance of comparative cytogenomic microarray technologies. The individuals reported in the literature with unusual deletions involving the 22q11 region, showed milder facial phenotypes, decreased incidence of cardiac anomalies and intellectual disability. We describe two sibs with an atypical 0.8 Mb microdeletion of chromosome 22q11 who both showed myelomeningocele and mild facial dysmorphisms. The association between neural tube defect and the clinical diagnosis of Di George anomaly/velocardiofacial syndrome is well documented in the literature, but not all cases had molecular studies to determine breakpoint regions. This report helps to narrow a potential critical region for neural tube defects associated with 22q11 deletions.</p>
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Neural Tube Defects and Atypical Deletion on 22q11.2

Neural Tube Defects and Atypical Deletion on 22q11.2

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