Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
- Authors
- Lespinasse, James; Gimelli, Stefania; Béna, Frédérique; Antonarakis, Stylianos E; Ansermet, François; Paoloni-Giacobino, Ariane
- Year
- 2009
- Journal
- European journal of medical genetics
- PMID
- 18992376
- DOI
- 10.1016/j.ejmg.2008.10.001
Chromosomal imbalances, recognized as the major cause of mental retardation (MR), are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. Array-based comparative genomic hybridization (array-CGH) improves considerably the detection rate of submicroscopic chromosomal abnormalities and has proven to be an effective tool for detection of submicroscopic chromosome abnormalities in children with MR and/or multiple congenital defects. Observations of array-CGH deletions in defined chromosomal regions linked to a clinical phenotype will more and more allow to define genotype-phenotype correlations. We report here the case of a 10-year-old female with a de novo 7.8 Mb deletion in the 6q13-6q14.1 ascertained by array-CGH. The clinical features of this patient include psychomotor and language delay associated with minor dysmorphic features.
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In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. | 2012 | 22702843 |
External
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| <i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals. | Kampmeier A et al. | — | 2022 | → |
| The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. | Engwerda A et al. | — | 2018 | → |
| Clinical Features in Patients with Microdeletion at 6q14.1-q15. | Zhou Q et al. | — | 2017 | → |
| Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay. | Parmeggiani G et al. | — | 2017 | → |
| Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review. | Catena S et al. | — | 2017 | → |
| KCNQ5 K(+) channels control hippocampal synaptic inhibition and fast network oscillations. | Fidzinski P et al. | — | 2015 | → |
| Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? | Shoukier M et al. | — | 2013 | → |
| Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. | Lin P et al. | — | 2012 | → |
| De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature. | Becker K et al. | — | 2012 | → |
| Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing. | Vlckova M et al. | — | 2012 | → |
| Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. | Van Esch H et al. | — | 2010 | → |