Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations - PubMed (original) (raw)
A M Vianna-Morgante, F S Jehee, M R Passos-Bueno, J Knijnenburg, K Szuhai, W Sloos, J F Mazzeu, F Kok, C Cheroki, P A Otto, R C Mingroni-Netto, M Varela, C Koiffmann, C A Kim, D R Bertola, P L Pearson, C Rosenberg
Affiliations
- PMID: 17124408
- DOI: 10.1159/000095922
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
A C V Krepischi-Santos et al. Cytogenet Genome Res. 2006.
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.
Similar articles
- Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M. Schoumans J, et al. J Med Genet. 2005 Sep;42(9):699-705. doi: 10.1136/jmg.2004.029637. J Med Genet. 2005. PMID: 16141005 Free PMC article. - What can we learn from old microdeletion syndromes using array-CGH screening?
Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M. Mosca-Boidron AL, et al. Clin Genet. 2012 Jul;82(1):41-7. doi: 10.1111/j.1399-0004.2011.01747.x. Epub 2011 Jul 26. Clin Genet. 2012. PMID: 21722100 - Genomic imbalances associated with mullerian aplasia.
Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C. Cheroki C, et al. J Med Genet. 2008 Apr;45(4):228-32. doi: 10.1136/jmg.2007.051839. Epub 2007 Nov 26. J Med Genet. 2008. PMID: 18039948 - Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
Murthy SK, Nygren AO, El Shakankiry HM, Schouten JP, Al Khayat AI, Ridha A, Al Ali MT. Murthy SK, et al. Cytogenet Genome Res. 2007;116(1-2):135-40. doi: 10.1159/000097433. Cytogenet Genome Res. 2007. PMID: 17268193
Cited by
- Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.
Krepischi-Santos AC, Rajan D, Temple IK, Shrubb V, Crolla JA, Huang S, Beal S, Otto PA, Carter NP, Vianna-Morgante AM, Rosenberg C. Krepischi-Santos AC, et al. Cytogenet Genome Res. 2009;125(1):1-7. doi: 10.1159/000218743. Epub 2009 Jul 14. Cytogenet Genome Res. 2009. PMID: 19617690 Free PMC article. - Use of array genomic hybridization technology for constitutional genetic diagnosis in Canada.
Duncan AM, Chodirker B. Duncan AM, et al. Paediatr Child Health. 2011 Apr;16(4):211-2. doi: 10.1093/pch/16.4.211. Paediatr Child Health. 2011. PMID: 22468123 Free PMC article. No abstract available. - Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Delea M, Massara LS, Espeche LD, Bidondo MP, Barbero P, Oliveri J, Brun P, Fabro M, Galain M, Fernández CS, Taboas M, Bruque CD, Kolomenski JE, Izquierdo A, Berenstein A, Cosentino V, Martinoli C, Vilas M, Rittler M, Mendez R, Furforo L, Liascovich R, Groisman B, Rozental S, Dain L, On Behalf Of The Pid Acm-Cc Group. Delea M, et al. Genes (Basel). 2022 Jun 29;13(7):1172. doi: 10.3390/genes13071172. Genes (Basel). 2022. PMID: 35885957 Free PMC article. - Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano GC, Bastos GC, da Costa SS, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, de Lima Jorge AA, Bertola DR, Rosenberg C, Krepischi ACV. Tolezano GC, et al. J Autism Dev Disord. 2024 Mar;54(3):1181-1212. doi: 10.1007/s10803-022-05853-z. Epub 2022 Dec 11. J Autism Dev Disord. 2024. PMID: 36502452 Review. - Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. Hannes FD, et al. J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11. J Med Genet. 2009. PMID: 18550696 Free PMC article.
MeSH terms
LinkOut - more resources
Full Text Sources
Medical