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

Laiara Cristina de Souza, Ilária Cristina Sgardioli, Vera Lúcia Gil da Silva Lopes, Társis Antônio Paiva Vieira

Resumo


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

Palavras-chave


19p13.11-p13.12 deletion; chromosomal microarray analysis (CMA); genotype-phenotype correlation

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DOI: http://dx.doi.org/10.5433/1679-0367.2017v38n1suplp63

Direitos autorais 2018 Semina: Ciências Biológicas e da Saúde

Licença Creative Commons
Esta obra está licenciada sob uma licença Creative Commons Atribuição - NãoComercial 4.0 Internacional.

Semina: Ciênc. Biol. Saúde

email: seminabio@uel.br

Londrina - PR
ISSN Print: 1676-5435

EISSN: 1679-0367