A rare 19p13.11-p13.12 deletion in a patient with microcephaly and developmental delay

Abstract

Submicroscopic deletions in chromosome 19 have been rarely reported.   The aim of this study was to describe the genotype-phenotype correlation of a 19p13.11-p13.12 deletion. A male patient was referred for genetic evaluation by presenting neurodevelopmental delay and facial dysmorphisms. He is the first child of non-consanguineous parents. Pregnancy and delivery were uneventful. Anthropometrical data at seven-year-old were weight 25,4 kg (p75), length 120 cm (p50) and head circumference 47,3 cm (< -2SD). It was also observed malar hypoplasia, low-set and dysmorphic ears, bilateral preauricular tags, synophrys, short nose with anteverted nares and flat nasal bridge, down-turned corners of the mouth, long philtrum, micrognathia, high palate and congenital clubfoot. Abdominal ultrasonography showed pyelocaliceal ectasia, transfontanellar ultrasound revealed mild enlargement of magna cisterna and a small cyst ate nucleous caudatus. GTG-banding was normal and chromosomal microarray analysis (CMA), using the CytoScan HD Array (Affymetrix®, Santa Clara, CA, USA) showed an interstitial