Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Author Krepischi-Santos, A. C. V. Google Scholar
Vianna-Morgante, A. M. Google Scholar
Jehee, F. S. Google Scholar
Passos-Bueno, M. R. Google Scholar
Knijnenburg, J. Google Scholar
Szuhai, K. Google Scholar
Sloos, W. Google Scholar
Mazzeu, J. F. Google Scholar
Kok, F. Google Scholar
Cheroki, C. Google Scholar
Otto, P. A. Google Scholar
Mingroni-Netto, R. C. Google Scholar
Varela, M. Google Scholar
Koiffmann, C. Google Scholar
Kim, C. A. Google Scholar
Bertola, D. R. Google Scholar
Pearson, P. L. Google Scholar
Rosenberg, C. Google Scholar
Institution Universidade de São Paulo (USP)
Leiden Univ
Universidade Federal de São Paulo (UNIFESP)
Robinow Syndrome Fdn
Abstract We report array-CGH screening of 95 syndromic patients with normal G-banded karyotypes and at least one of the following features: mental retardation, heart defects, deafness, obesity, craniofacial dysmorphisms or urogenital tract malformations. Chromosome imbalances not previously detected in normal controls were found in 30 patients (31%) and at least 16 of them (17%) seem to be causally related to the abnormal phenotypes. Eight of the causative imbalances had not been described previously and pointed to new chromosome regions and candidate genes for specific phenotypes, including a connective tissue disease locus on 2p16.3, another for obesity on 7q22.1 -> q22.3, and a candidate gene for the 3q29 deletion syndrome manifestations. the other causative alterations had already been associated with well-defined phenotypes including Sotos syndrome, and the 1p36 and 22q11.21 microdeletion syndromes. However, the clinical features of these latter patients were either not typical or specific enough to allow diagnosis before detection of chromosome imbalances. for instance, three patients with overlapping deletions in 22q11.21 were ascertained through entirely different clinical features, i.e., heart defect, utero-vaginal aplasia, and mental retardation associated with psychotic disease. Our results demonstrate that ascertainment through whole-genome screening of syndromic patients by array-CGH leads not only to the description of new syndromes, but also to the recognition of a broader spectrum of features for already described syndromes. Furthermore, on the technical side, we have significantly reduced the amount of reagents used and costs involved in the array-CGH protocol, without evident reduction in efficiency, bringing the method more within reach of centers with limited budgets. Copyright (c) 2006 S. Karger AG, Basel.
Language English
Date 2006-01-01
Published in Cytogenetic and Genome Research. Basel: Karger, v. 115, n. 3-4, p. 254-261, 2006.
ISSN 1424-8581 (Sherpa/Romeo, impact factor)
Publisher Karger
Extent 254-261
Origin http://dx.doi.org/10.1159/000095922
Access rights Closed access
Type Article
Web of Science ID WOS:000242391500009
URI http://repositorio.unifesp.br/handle/11600/28679

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