Distal monosomy 17q
Distal monosomy 17q
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).
Also known as distal 17q deletion, distal monosomy type 17q, monosomy 17qter, telomeric deletion 17q — per MONDO