December 2016 Vol. 4 No.12

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Case Report

A mental and motor retarded dysmorphic case with heterozygous 1p36 deletion: Comparable results from cytogenetic, MicroArray-CGH, FISH and MLPA techniques

Fatma Silan^*, Onur Yildiz, Mine Urfali, Zeliha Guler and Ozturk Ozdemir

Canakkale Onsekiz Mart University, Faculty of Medicine Department of Medical Genetics, 17100, Canakkale / Turkey

*Corresponding Authors E-mail: fsilan@yahoo.com
Tel: +90 286 2180018/2107

Accepted November 30, 2016

Abstract

Deletions of chromosome 1p36 ("1p36 deletion", "monosomy 1p36 deletion", or "1p36 deletion syndrome") affects approximately 1 in 5,000 newborns and are associated with mental retardation, developmental delay, hypotonia and craniofacial dysmorphisms. Here we report a mental and motor retarded case of 1p36 deletion with ISG15, AGRN, TNFRSF4, B3GALT, DVL1, TMEM240, GABRD and SKI affected genes. We report a 9 years old case of 46,XX,del1p36 karyotype. She has low-set ears, short middle finger, hand transverse lines and sparse teeth of dysmorphic findings. She has also mental and motor retardation, intellectual disability (few words in 6 years), autism spectrum, hypotonia, hypermetropia and obesity. She was misdiagnosed as Bardet Biedl Syndrome before referred our department. She was diagnosed by comparing different techniques of conventional cytogenetic karyotype analysis, MicroArray-CGH (Agilent 60 K platform, US), MLPA (microdeletion/ duplication P245 kit, MRC Holland) and FISH (1p36.33 SKI red-1qter green, Cytocell) methods. She had normal chromosomes and FISH profiles but 1440 kb heterozygous deletion in 1p36.33 region involving ISG15, AGRN, TNFRSF4, B3GALT, DVL1, TMEM240, GABRD, SKI genes by microarray and TNFRSF4, GNB1-3, GABRD2 genes in 1p36 locus were detected by MLPA techniques. Results showed the haploinsufficiency of more than 11 genes may contribute to above phenotypes of our case with 1p36 syndrome. Results also indicate the using of comparable techniques have a crucial role in the advance diagnosis of such cases with minor deletions that is not detectable by conventional cytogenetics and FISH techniques.

Keywords: Copy number variations, Dysmorphological features, Mental and motor retardation, MLPA, 46,XX karyotype, 1p36.33 deletion