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6q25 microdeletion syndrome

Orpha number ORPHA251056
Synonym(s) Del(6)(q25)
Monosomy 6q25
Prevalence <1 / 1 000 000
Inheritance
  • Sporadic
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q93.5
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

It has been clinically and molecularly characterized in 4 patients.

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.

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.

Expert reviewer(s)

  • Dr Nicole MORICHON-DELVALLEZ

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