Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. (9th September 2018)

• Record Type: Journal Article
• Authors: Shenoy, Rathika Damodara; Shenoy, Vijaya; Shetty, Vikram
• Other Names: Paracchini Silvia Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2018(2018)
• Publication Date: 2018-09-09
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2018/1928918
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : This case series of three children reports clinical features and chromosomal abnormalities seen in a craniofacial clinic. All presented with orofacial cleft, developmental or intellectual disability, and dysmorphism. Emanuel syndrome or supernumerary der (22)t(11; 22), the prototype of complex small supernumerary marker disorders, was seen in one child. Duplication 4q27q35.2 with concomitant deletion 21q22.2q22.3 and duplication 12p13.33p13.32 with concomitant deletion 18q22.3q23 seen in the remaining two children are not reported in literature. Maternal balanced translocation was established in both of these children.