Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes
Articolo
Data di Pubblicazione:
2008
Citazione:
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes / C. Gervasini, R. Pfundt, P. Castronovo, S. Russo, G. Roversi, M. Masciadri, D. Milani, G. Zampino, A. Selicorni, E. Schoenmakers, L. Larizza. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 74:6(2008), pp. 531-538.
Abstract:
Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental
retardation syndrome characterized by varied clinical signs including facial
dysmorphism, pre- and post-natal growth defects, small hands and malformations of
the upper limbs. Established genetic causes include mutations in the NIPBL
(50-60%), SMC1L1 and SMC3 (5%) genes. To detect chromosomal rearrangements
pointing to novel positional candidate CdLS genes, we used array-CGH to analyze a
subgroup of 24 CdLS patients negative for mutations in the NIPBL and SMC1L1
genes. We identified three carriers of DNA copy number alterations, including a
de novo 15q26.2-qter 8-Mb deletion, and two inherited 13q14.2-q14.3 1-Mb deletion
and 13q21.32-q21.33 1.5-Mb duplication, not reported among copy number variants.
The clinical presentation of all three patients matched the diagnostic criteria
for CdLS, and the phenotype of the patient with the 15qter deletion is compared
to that of both CdLS and 15qter microdeletion patients.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
15qter deletion; Array-CGH; Cornelia de Lange syndrome; Genomic imbalances
Elenco autori:
C. Gervasini, R. Pfundt, P. Castronovo, S. Russo, G. Roversi, M. Masciadri, D. Milani, G. Zampino, A. Selicorni, E. Schoenmakers, L. Larizza
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