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15q14 microdeletion syndrome
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
ORPHA:261190Classification level: Disorder
- Monosomy 15q14
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable or Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q93.5
- OMIM: 616898
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in 4 patients so far.
Dysmorphic features include bitemporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions.
Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size with the smallest deletion being 1.6 Mb in length.
A summary on this disease is available in Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf) Polski (2011, pdf)
- Article for general public
- English (2020, pdf) - Unique
: produced/endorsed by FSMR(s)