Akademik Veri Yönetim Sistemi
13. Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, ss.41
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.