Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene

Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene

Abstract Background Patients with deletions involving the long arm of chromosome 1 are rare. The PBX1 gene is located on chromosome 1q23.3. PBX1 encodes a transcription factor which promotes protein–protein interaction and plays a crucial role in several developmental processes. PBX1 haploinsufficie...

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Bibliographic Details
Main Authors: Man Luo, Xia Gu, Ting Zhou, Chaoli Chen
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Molecular Cytogenetics
Subjects:
PBX1
Chromosomal microdeletions/microduplications
Chromosomal microarray analysis
Congenital anomalies of kidney and urinary tract
Ultrasound
Prenatal diagnosis
Online Access:https://doi.org/10.1186/s13039-022-00632-y

Internet

https://doi.org/10.1186/s13039-022-00632-y

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