Distal monosomy 6p
Også kjent som: Monosomi 6p
Engelsk navn: Distal deletion 6p
Engelske synonym: 6p subtelomeric deletion syndrome,6p25 microdeletion syndrome,Distal deletion 6p25,Monosomy 6p25,Monosomy 6pter
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.