Abstract
Most cases of Smith-Magenis Syndrome are diagnosed in children with self-destructive behaviors, disturbed sleep patterns, dysmorphic features, speech delay, and mental retardation. We report the detection of an interstitial deletion of the short arm of chromosome 17 at band p11.2 in a newborn infant with mild dysmorphic features. She was born at 39 gestational weeks and chromosome analysis was performed within the first 24 hours after birth due to the findings of prominent forehead, mild midface hypoplasia, small nose, and anteverted nostrils. Cytogenetic analyses in metaphases (450 bands) and prometaphases (750 bands) revealed the presence of an interstitial deletion 17p11.2. The microdeletion for the Smith-Magenis region was confirmed with fluorescence “in situ” hybridization (FISH) studies using the dual color Vysis probe and the ONCOR probe. Chromosome studies and FISH studies are pending on the parents. The diagnosis of an interstitial deletion 17p11.2 in a newborn infant offers the opportunity to provide early intervention and behavior management of the severe developmental and behavioral symptoms described in this syndrome. It also raises the question on whether or not this microdeletion may be present in children with dysmorphic features who are not diagnosed because they have milder clinical manifestations of this syndrome.
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Lozzio, C., Ryan, T., Bamberger, E. et al. Smith-Magenis Syndrome Diagnosed at Birth. Genet Med 2, 93 (2000). https://doi.org/10.1097/00125817-200001000-00152
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DOI: https://doi.org/10.1097/00125817-200001000-00152