A rare 19p13.11-p13.12 deletion in a patient with microcephaly and developmental delay
| Autor: | Laiara Cristina de Souza, Vera Lúcia Gil da Silva Lopes, Ilária Cristina Sgardioli, Társis Paiva Vieira |
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| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Semina: Ciências Biológicas e da Saúde. 38:63 |
| ISSN: | 1679-0367 1676-5435 |
| DOI: | 10.5433/1679-0367.2017v38n1suplp63 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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