Microdeletion of chromosomal region 8q23.3-q24.11 associated with Langer-Giedion and Cornelia de Lange type IV syndromes
DOI:
https://doi.org/10.13112/PC.2016.16Keywords:
8q23.3-q24.11 deletion, Cornelia de Lange syndrome-4, CdLS-4, Langer-Giedion syndrome, LGS, RAD21, TRPS1, EXT1, chromosomal microarray, CMAAbstract
Microdeletion of chromosomal region 8q23.3-q24.11 is associated with Langer-Giedion syndrome, or trichorhinophalangeal syndrome type II, a rare genetic disorder characterized by phenotype consistent with trichorhinophalangeal syndrome type I but also including multiple hereditary osteochondromas type I. Since this is a contiguous gene deletion syndrome, clinical presentation varies depending on the size of the deleted region. The referred region also contains RAD21 gene, the heterozygous deletions and mutations of which are associated with Cornelia de Lange syndrome type IV. We present two patients with a deletion that includes chromosomal region 8q23.3-q24.11, in which the molecular and cytogenetic analysis showed that were aff ected by two distinct disorders, Langer-Giedion syndrome and Cornelia de Lange syndrome type IV.
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