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Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
Eur J Med Genet. 2005 Jul-Sep; 48(3):355-9.EJ

Abstract

A dysmorphic boy with severe mental retardation was found on array CGH to have an insertional translocation of chromosome 16p13.3 into the short arm of chromosome 22, karyotype 46,XY,.ish der(22),ins(22;16)(p13;p13.3p13.3) de novo. His clinical features overlap with the reported cases of 'duplication 16p' syndrome, namely a round face, hypertelorism, a long philtrum, micrognathia, a thin upper lip, a posterior cleft palate and low set, simple ears, clubbed feet, severe developmental delay, psychomotor retardation and seizures. This 4-year boy with trisomy 16p13.3 has the smallest duplication reported of this critical region, which could not be detected without array CGH. The maximal duplicated region is gene rich and contains about 80 genes and/or candidate genes. Assignment of the genes that contribute to the observed phenotype awaits the characterisation of other patients with small duplications in this region.

Authors

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Pub Type(s)

Case Reports
Letter

Language

eng

PubMed ID

16179232

Citation

de Ravel, Thomy, et al. "Trisomy of Chromosome 16p13.3 Due to an Unbalanced Insertional Translocation Into Chromosome 22p13." European Journal of Medical Genetics, vol. 48, no. 3, 2005, pp. 355-9.
de Ravel T, Aerssens P, Vermeesch JR, et al. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. Eur J Med Genet. 2005;48(3):355-9.
de Ravel, T., Aerssens, P., Vermeesch, J. R., & Fryns, J. P. (2005). Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. European Journal of Medical Genetics, 48(3), 355-9.
de Ravel T, et al. Trisomy of Chromosome 16p13.3 Due to an Unbalanced Insertional Translocation Into Chromosome 22p13. Eur J Med Genet. 2005 Jul-Sep;48(3):355-9. PubMed PMID: 16179232.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. AU - de Ravel,Thomy, AU - Aerssens,Peter, AU - Vermeesch,Joris R, AU - Fryns,Jean-Pierre, PY - 2005/05/05/received PY - 2005/05/06/accepted PY - 2005/9/24/pubmed PY - 2005/11/10/medline PY - 2005/9/24/entrez SP - 355 EP - 9 JF - European journal of medical genetics JO - Eur J Med Genet VL - 48 IS - 3 N2 - A dysmorphic boy with severe mental retardation was found on array CGH to have an insertional translocation of chromosome 16p13.3 into the short arm of chromosome 22, karyotype 46,XY,.ish der(22),ins(22;16)(p13;p13.3p13.3) de novo. His clinical features overlap with the reported cases of 'duplication 16p' syndrome, namely a round face, hypertelorism, a long philtrum, micrognathia, a thin upper lip, a posterior cleft palate and low set, simple ears, clubbed feet, severe developmental delay, psychomotor retardation and seizures. This 4-year boy with trisomy 16p13.3 has the smallest duplication reported of this critical region, which could not be detected without array CGH. The maximal duplicated region is gene rich and contains about 80 genes and/or candidate genes. Assignment of the genes that contribute to the observed phenotype awaits the characterisation of other patients with small duplications in this region. SN - 1769-7212 UR - https://www.unboundmedicine.com/medline/citation/16179232/Trisomy_of_chromosome_16p13_3_due_to_an_unbalanced_insertional_translocation_into_chromosome_22p13_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(05)00102-3 DB - PRIME DP - Unbound Medicine ER -