Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder

Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder

Abstract Background 4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, developmental delay, growth retardation, Pierre Robin sequence, autistic sp...

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Bibliographic Details
Main Authors: Juan Pablo Meza-Espinoza, José Alfredo Contreras-Gutiérrez, Eliakym Arámbula-Meraz, Juan Ramón González-García, Ma. Guadalupe Domínguez-Quezada, Noemí García-Magallanes, Jesús Madueña-Molina, Julio Benítez-Pascual, Miriam Partida-Pérez, Verónica Judith Picos-Cárdenas
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Molecular Cytogenetics
Subjects:
Chromosome 4
de novo 4q deletion
Cytogenomic characterization
aCGH
Clinical heterogeneity
Online Access:https://doi.org/10.1186/s13039-021-00564-z

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