TY - JOUR TI - Síndrome por deleción 18p diagnosticado por array de hibridación genómica comparada. Presentación de un caso con fenotipo leve PB - Sociedad Argentina de Pediatría PY - 2016 issn 0325-0075 AB - 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. KW - Síndrome KW - Retardo mental KW - Malformaciones KW - Ciencias socio biomédicas KW - Medical sciences KW - Anomalías congénitas UR - http://hdl.handle.net/10906/81646 ER -