Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability
Abstract Background The X chromosome has historically been one of the most thoroughly investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed to many factors including copy number variations (CNVs). Duplications of the long arm of the X chromosome have been repo...
Main Authors: | Sepideh Mehvari, Farzaneh Larti, Hao Hu, Zohreh Fattahi, Maryam Beheshtian, Seyedeh Sedigheh Abedini, Sanaz Arzhangi, Hans‐Hilger Ropers, Vera M. Kalscheuer, Daniel Auld, Kimia Kahrizi, Yasser Riazalhosseini, Hossein Najmabadi |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2020-10-01
|
Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1418 |
Similar Items
-
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1
by: Chih-Ping Chen, et al.
Published: (2017-06-01) -
Variant Turner Syndrome With 46, X, i(Xq) Karyotype: A Case Report
by: Mahmut Balkan, et al.
Published: (2005-01-01) -
Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
by: Cetin Z, et al.
Published: (2011-01-01) -
T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
by: Xavier Rios, et al.
Published: (2017-07-01) -
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
by: Chun-Chun Hu, et al.
Published: (2018-10-01)