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Distal monosomy 17q

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


Disease definition

Distal monosomy 17q 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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