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A Case of Koolen de Vries Syndrome or 17q21.31 Microdeletion Syndrome Associated with Infertility: A Case Report

[ ISSN : 2473-0688 ]

Abstract
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Received: 04-Feb-2018

Accepted: 15-Feb-2018

Published: 20-Feb-2018

Case Report | Volume 4 - Issue 1 | Article DOI :

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Azra Moradalibeigi¹, Neda Asgarzade², and Hojatolah Rezaei³*

¹Counselor in Welfare Organization of Babol, Iran

²Shomal Infertility Clinic, Amol, Iran

³Division for Counseling Genetics, Babol Medical University, Babol, Iran

Corresponding Author:

Hojatolah rezaei, Division for counseling genetics, Babol Medical University, Babol, Iran, Tel: 09127578537-00981132289084; Email: Hojatrezaei60@gmail.co

Keywords

Koolen de Vries or 17q21.31 microdeletion syndrome; Array-CGH; Infertility

Abstract

The chromosome 17q21.31 microdeletion syndrome (Koolen de vries Syndrome) is a genomic disorder in patients with unexplained mental retardation that has originally been identified using high resolution genome analyses such as array CGH. Here we report the clinical characterization of a man with the 17q21.31 microdeletion syndrome and infertility. Clinical examination reveals that mild developmental delay, poor speech development, stutter, facial dysmorphisms including a long face, high narrow palate, a tubular or pear-shaped nose and a bulbous nasal tip, a friendly behavior and the main characteristic features to refer was infertility. Other clinically important features include hypothyroidism, bilateral asymmetry in brain MRI, without any anomalies in urogenital examination and echocardiography. Using array CGH we found pathologic loss of 921 kb on 17q21.31compatible with Koolen de Vries syndrome. The chromosome 17q21.31 microdeletion syndrome or Koolen de Vries syndrome recognizable as a genomic disorder with broad features and infertility may be occur.

Citation

moradalibeigi A, Asgarzade N, rezaei H. A Case of Koolen de vries Syndrome or 17q21.31 Microdeletion Syndrome Associated with Infertility: A Case Report. SM J Case Rep. 2018; 4(1): 1080.