alexa Case Report: Interstitial Deletion 21q22.13-Q22.3 in a Male Patient with Developmental Delay, Holoprosencephaly, Dysmorphic Features, and Multiple Congenital Anomalies | Abstract
ISSN-2155-9929

Journal of Molecular Biomarkers & Diagnosis
Open Access

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Case Report

Case Report: Interstitial Deletion 21q22.13-Q22.3 in a Male Patient with Developmental Delay, Holoprosencephaly, Dysmorphic Features, and Multiple Congenital Anomalies

Ibtessam Ramzi Hussein1*, Bassiouni R2, Chaudhary A3, Al Malki2 and Al Qahtani M1,3

1Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Saudi Arabia

2Children Hospital, Ministry of Health, AlTaif, Saudi Arabia

3Faculty of Medical Sciences, King Abdulaziz University, Saudi Arabia

*Corresponding Author:
Ibtessam Ramzi Hussein
Centre of Excellence in Genomic Medicine Research
King Abdulaziz University, P.O. Box: 80216
Jeddah 21589, Saudi Arabia
Tel: + 966 (02) 6401000
E-mail: [email protected]

Received Date:Jan 14, 2015;Accepted Date:Feb 18, 2015; Published Date:Mar 02, 2015

Citation: Hussein IR, Bassiouni R, Chaudhary A, Malki A, Al Qahtani M (2015) Case Report: Interstitial Deletion 21q22.13-Q22.3 in a Male Patient with Developmental Delay, Holoprosencephaly, Dysmorphic Features, and Multiple Congenital Anomalies. J Mol Biomark Diagn 6:222. doi:10.4172/2155-9929.1000222

Copyright: © 2015 Hussein IR, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

We report on a new case with developmental delay, dysmorphic features, holoprosencephaly that showed deletion in long arm of chromosome 21 (21q22.13-q22.3). The patient is a male 3 months old presented with frontonasal dysplasia, scoliosis, abnormal ears, VSD, hypospadias, undescended testis. MRI has shown holoprosencephaly and agenesis of corpus callosum. Array-comparative genomic hybridization using the Agilent 2×400 oligoarray showed an interstitial deletion in chr21q22.13-q22.3, (start-end: 36,854,967-46,006,008 bp) deletion size is 9 Mb (9,151,042 bp) and includes 75 genes (Data base of genomic variants, hg18). The deletion was found to be maternal in origin. The findings from this report underscore the role of the genes at chromosome 21q22.13-q22.3 in brain development and indicate the usefulness of array-CGH in identification of the deletion size and detection of genes that could be correlated to the patient’s phenotype.

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