ArticleMolecular cytogenetics2015
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.
Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Altered expression of histamine signaling genes in autism spectrum disorder.Translational psychiatry · 2017Pooled it
- Case report: A newFrontiers in genetics · 2023Article
- A de novoCold Spring Harbor molecular case studies · 2022Article
- Regulation of Osteoclast Differentiation and Skeletal Maintenance by Histone Deacetylases.Molecules (Basel, Switzerland) · 2019Review
- Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE-compliant case report and literature review.BMC anesthesiology · 2018Review
- Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.Molecular syndromology · 2017Article
- Article
- Assessment of copy number variations in 120 patients with Poland syndrome.BMC medical genetics · 2016Article
- Histone Deacetylases in Bone Development and Skeletal Disorders.Physiological reviews · 2015Review
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInterstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype correlation has been determined yet.
resultsWe present a child with a 6q21q22.1 deletion, characterized by array-CGH, associated with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, skeletal, muscle, and brain anomalies. DISCUSSION: In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1) and two desert gene regions. We discuss here if these genes had some role in determining the phenotype of our patient in order to establish a possible karyotype/phenotype correlation.
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