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  -