A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability
Abstract Background Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in marked growth restriction, severe intellectual disability, and absent o...
Main Authors: | Živilė Maldžienė, Evelina M. Vaitėnienė, Beata Aleksiūnienė, Algirdas Utkus, Eglė Preikšaitienė |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2020-04-01
|
Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12920-020-0711-4 |
Similar Items
-
Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
by: Sara M. Blazejewski, et al.
Published: (2018-03-01) -
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
by: Sciacca Francesca Luisa, et al.
Published: (2018-11-01) -
Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities
by: Chih-Ping Chen, et al.
Published: (2018-02-01) -
Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome
by: Tehila Stern, et al.
Published: (2021-01-01) -
Mice with mutations in Trpm1, a gene in the locus of 15q13.3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior
by: Tesshu Hori, et al.
Published: (2021-03-01)