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Distal monosomy 17q

ORPHA1597
Synonym(s) Distal 17q deletion
Monosomy 17qter
Telomeric 17q deletion
Prevalence Unknown
Inheritance Not applicable
or Unknown
Age of onset Neonatal
ICD-10
  • Q93.5
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

Chromosome 17q deletion syndrome (deletion of the long arm of chromosome 17) is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).


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