Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review
Abstract Background 13q33-q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the...
Saved in:
Main Authors: | Xue He (Author), Huijun Shen (Author), Haidong Fu (Author), Chunyue Feng (Author), Zhixia Liu (Author), Yanyan Jin (Author), Jianhua Mao (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2020-07-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A novel locus (<it>CORD12</it>) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
by: Meunier Isabelle, et al.
Published: (2011) -
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
by: Jin Hwan Lee, et al.
Published: (2016) -
14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay
by: Jae Hyuk Kwon, et al.
Published: (2020) -
Isolated left ventricular hypoplasia - A singularity
by: Naseer A Choh, et al.
Published: (2020) -
Left Pulmonary Artery Thrombosis in a Neonate with Left Lung Hypoplasia
by: Matthias P. van Schendel, et al.
Published: (2012)