Authors,Title,Year,Link,Abstract,Keywords,Publisher,Pubplace,Language,Document Type "Síndrome por deleción 18p diagnosticado por array de hibridación genómica comparada. Presentación de un caso con fenotipo leve",2016,"http://hdl.handle.net/10906/81646","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.","Síndrome,Retardo mental,Malformaciones,Ciencias socio biomédicas,Medical sciences,Anomalías congénitas","Sociedad Argentina de Pediatría","spa","info:eu-repo/semantics/report",