Deletion on the short arm of chromosome 18 syndrome diagnosed by array comparative genomic hybridization. Presentation of one case with a mild phenotype

Autor:	Pachajoa Londoño, Harry Mauricio
Jazyk:	Spanish; Castilian
Rok vydání:	2016
Předmět:	Retardo mental Ciencias socio biomédicas Malformaciones Anomalías congénitas Medical sciences Síndrome
Zdroj:	Repositorio ICESI Universidad ICESI instacron:Universidad ICESI
Popis:	Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization.
Databáze:	OpenAIRE
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