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A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role forMBNLI
- Source :
- American Journal of Medical Genetics Part A. 173:280-284
- Publication Year :
- 2016
- Publisher :
- Wiley, 2016.
-
Abstract
- We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750 Kb, where two genes (MBNL1 and TMEM14E) are harbored. The potential role of MBNL1 in causing the WS phenotype is discussed. © 2016 Wiley Periodicals, Inc.
- Subjects :
- 0301 basic medicine
ZIC1
03 medical and health sciences
chemistry.chemical_compound
Dandy–Walker syndrome
Genetics
medicine
Humans
MBNL1
Strabismus
Genetic Association Studies
In Situ Hybridization, Fluorescence
Genetics (clinical)
hirsutism
Comparative Genomic Hybridization
business.industry
Facies
Infant
RNA-Binding Proteins
Syndrome
medicine.disease
Magnetic Resonance Imaging
Phenotype
Molecular mapping
030104 developmental biology
chemistry
Female
Chromosomes, Human, Pair 3
Chromosome Deletion
business
Comparative genomic hybridization
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 173
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....4ab9d632ff0ce2b232e766d363185d7b