Deleción 17p11.2 en una niña dismórfica con evidencia fenotípica de síndrome de smith-magenis y una revisión de la literatura

Abstract

Chromosomal deletions are structural abnormalities that cause loss of genomic material, depending on its
length they use to generate several disabling genetic conditions. Interstitial deletion of chromosome 17 short
arm in 17p11.2 region is related to the appearance of phenotypic characteristics related to a genetic condition
known as Smith-Magenis syndrome. This deletions spans in a range between <1.5 and 9 Mb, shows some
features as craniofacial dysmorphia, delayed psychomotor development, speech problems, sleep disorders,
limb abnormalities, malformations of brain, heart and kidney also are expressed. We present a case of a 10
monthsold girl with brachycephaly, bulging forehead, sunken eyes, epicanthal folds, malformed ears, short
philtrum, small mouth and ventriculomegaly. The gir´sl karyotype was 46,XX,del(17)(p11.2), no molecular
tests were performed because they were not available, but the phenotypic evidence, the clinical and classical
cytogenetic aspects are suggestives of Smith-Magenis Syndrome. We propose to follow up of this case and
perform modern molecular tests for a definitive diagnosis.