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1q44 microdeletion syndrome

Orpha number ORPHA238769
Synonym(s) Del(1)(q44)
Monosomy 1q44
Prevalence <1 / 1 000 000
Inheritance
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • Q93.5
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

It has been reported in four unrelated patients.

The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.

This microdeletion was identified by array CGH (comparative genomic hybridization).

Expert reviewer(s)

  • Dr Nicole MORICHON-DELVALLEZ

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