Paediatria Croatica, Vol. 60 No. 3, 2016.
Recenzija, Prikaz slučaja
https://doi.org/10.13112/PC.2016.16
Microdeletion of chromosomal region 8q23.3-q24.11 associated with Langer-Giedion and Cornelia de Lange type IV syndromes
Ana-Maria Ivankov
orcid.org/0000-0001-5925-0934
; Klinika za dječje bolesti Zagreb
Adriana Bobinec
orcid.org/0000-0001-9634-0920
Ljubica Boban
Ivona Sansović
orcid.org/0000-0002-9325-0847
Ingeborg Barišić
orcid.org/0000-0002-9085-6747
Sažetak
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.
Ključne riječi
8q23.3-q24.11 deletion; Cornelia de Lange syndrome-4; CdLS-4; Langer-Giedion syndrome; LGS; RAD21; TRPS1; EXT1; chromosomal microarray; CMA
Hrčak ID:
173786
URI
Datum izdavanja:
24.9.2016.
Posjeta: 1.469 *