Article

Congenital Hydrocephalus and Hemivertebrae Associated With De NOVO Partial Monosomy 6q (6q25.3→qter)

2015-06-01

Abstract excerpt

Abstract This study was conducted to describe a prenatal case of congenital hydrocephalus and hemivertebrae with a 6q terminal deletion and to investigate the possible correlation between the genotype and phenotype of the proband. We performed an array-based comparative genomic hybridization (aCGH) analysis on a fetus diagnosed with congenital hydrocephalus and hemivertebrae. The deletion, spanning 10.06 Mb from 6...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0e68d15f-9eb7-5430-a2bb-9d538d049f0a
DOI: 10.1515/bjmg-2015-0009

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Congenital Hydrocephalus and Hemivertebrae Associated With De NOVO Partial Monosomy 6q (6q25.3→qter)DOI 10.1515/bjmg-2015-0009Read

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.Semantic proximity Read

Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother.Semantic proximity Read

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.Semantic proximity Read

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature reviewSemantic proximity Read

New insights into the phenotypes of 6q deletions.Semantic proximity Read

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.Semantic proximity Read

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for<i>DLL1</i>Semantic proximity Read

Identification of proximal 1p36 deletions using array‐CGH: a possible new syndromeSemantic proximity Read

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.Semantic proximity Read

[Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome].Semantic proximity Read

Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literatureSemantic proximity Read

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.Semantic proximity Read