Chromosome 4q Deletion Latest Advances

Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 28, 2023

SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients.

Journal: eLife

Published: February 12, 2021

Loss of cGMP-dependent protein kinase II alters ultrasonic vocalizations in mice, a model for speech impairment in human microdeletion 4q21 syndrome.

Journal: Neuroscience letters

Published: January 06, 2021

Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.

Journal: Cytogenetic and genome research

Published: September 25, 2020

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.

Journal: BMC medical genomics

Published: June 06, 2019

Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature.

Journal: Cytogenetic and genome research

Published: February 12, 2019

Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.

Journal: Archives of gynecology and obstetrics

Published: February 16, 2017

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

Journal: Cytogenetic and genome research

Published: July 11, 2016

Bilateral absence of the ulna in 4q terminal deletion syndrome: evidence for a critical region.

Journal: Clinical dysmorphology

Published: February 27, 2015

Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome?

Journal: Journal of the neurological sciences

Published: September 16, 2014

4q21 microdeletion in a patient with epilepsy and brain malformations.

Journal: American journal of medical genetics. Part A

Published: September 04, 2014

Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: May 01, 2014