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Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability
Gespeichert in:
Personen und Körperschaften: | , , , , , , |
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Titel: |
Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability |
In: | American Journal of Medical Genetics Part A, 158A, 2012, 10, S. 2587-2590 |
veröffentlicht: |
Wiley
|
Umfang: | 2587-2590 |
ISSN: |
1552-4825 1552-4833 |
DOI: | 10.1002/ajmg.a.35562 |
Zusammenfassung: | <jats:title>Abstract</jats:title><jats:p>Interstitial deletions of the short arm of chromosome 3 are rare. We report on a 3‐year‐old girl with intellectual disability, muscular hypotonia, strabismus, and facial anomalies in whom an interstitial 1.24 Mb deletion in 3p25.3–p26.1 was detected by SNP array analysis. The deleted region harbors 11 RefSeq genes including <jats:italic>CAV3</jats:italic> and <jats:italic>SRGAP3/MEGAP</jats:italic>, which had been associated with muscle disorders and intellectual disability, respectively. The deletion overlaps with a slightly larger deletion in a girl with a more complex phenotype including congenital heart defect and epilepsy, which indicates that haploinsufficiency of one or several of the genes in the deleted interval causes intellectual deficits, but not heart defects or epilepsy. Thus, the patient broadens our knowledge of the phenotypic consequences of deletions in 3p25.3–p26.1 and facilitates genotype‐phenotype correlations for chromosome aberrations of this region. © 2012 Wiley Periodicals, Inc.</jats:p> |
Format: | E-Article |
Quelle: | Wiley (CrossRef) |
Sprache: | Englisch |