Chromosome 6q25 microdeletion syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 251056
Definition
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
Epidemiology
It has been clinically and molecularly characterized in 4 patients.
Clinical description
All of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.
Etiology
This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3. These de novo deletions were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size with the smallest region of overlap (SRO) of 3.52 Mb.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Boca Raton, FL, 33429 , United States Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.org/ Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/
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