%0 Journal Article 
%T Síndrome por deleción 18p diagnosticado por array de
hibridación genómica comparada. Presentación de un caso
con fenotipo leve
%D 2016
%@ 0325-0075
%U http://hdl.handle.net/10906/81646
%X 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.
%K Síndrome
%K Retardo mental
%K Malformaciones
%K Ciencias socio biomédicas
%K Medical sciences
%K Anomalías congénitas
%~ GOEDOC, SUB GOETTINGEN