A de novo 6q21q22.33 deletion in a boy with microcephaly, developmental delay and dysmorphic features


Keleş Z., Özyavuz Çubuk P., Koç A., Erçal M. D.

13. Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019, pp.41

  • Publication Type: Conference Paper / Summary Text
  • City: Edirne
  • Country: Turkey
  • Page Numbers: pp.41
  • Dokuz Eylül University Affiliated: Yes

Abstract

Introduction and Aim: Microcephaly is described as a head circumference more than two standard deviations below the mean for age and gender. Microcephaly may be due to genetic or environmental reasons. It may be associated with syndromic microcephaly, multiple congenital anomalies, neurological signs, or dysmorphic features. It may be due to single gene defects, numerical or structural chromosomal abnormalities. In this study, we aimed to discuss the phenotype-genotype relation in a case of microcephaly and dysmorphic features with microdeletion detected by microarray. Material and Method: At twelve months of age, the male patient was referred to us with atypical facial appearance and had a head circumference of 42 cm (<3p), a height of 72 cm (10p), a weight of 8 kg (<3p). Physical examination revealed epicanthus, hypertelorism, depressed nasal bridge and micrognathia. He had neuromotor developmental delay. Cytogenetic analysis was reported as 46, XY. Also his aunt's daughter has microcephaly. Results: Microarray detected de novo deletion of chromosome 6q21q22.33. This region is pathogenic according to the DECIPHER and ISCA databases and contains 78 genes. Discussion: Phenotypic features such as mental disability, autism, delayed speech and language development, hypertelorism, microcephaly, strabismus, and wide nose bridge were noted in cases with similar deletions in previously defined regions. In this study, we aimed to contribute to the literature by presenting a case of 6q21q22.33 deletion with similar phenotypic features.