ArticleBalkan journal of medical genetics : BJMG2015
Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter).
Article in Balkan journal of medical genetics : BJMG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.Clinical genetics · 2022Pooled it
- Hemivertebra with pathogenic microdeletion of chromosome 9.Clinical case reports · 2024Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.Orphanet journal of rare diseases · 2023Article
- Twin pregnancy complicated with congenital Hemivertebra: report of two cases and literature review.BMC pregnancy and childbirth · 2020Review
- A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant.Journal of clinical laboratory analysis · 2020Article
- Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.American journal of human genetics · 2019Article
- Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.Frontiers in genetics · 2017Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 6q25.3 to 6qter, was detected in this fetus. The results of aCGH, karyotype and fluorescent in situ hybridization (FISH) analyses in the healthy parents were normal, which confirmed that the proband's copy-number variant (CNV) was de novo. This deleted region encompassed 97 genes, including 28 OMIM genes. We discussed four genes (TBP, PSMB1, QKI and Pacrg) that may be responsible for hydrocephalus while the T gene may have a role in hemivertebra. We speculate that five genes in the 6q terminal deletion region were potentially associated with hemivertebrae and hydrocephalus in the proband.
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Registered trials
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