distal monosomy 17q
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).
MONDO:0016915
partial deletion of the long arm of chromosome 17
is_a
17q deletion
related
17q monosomy
related
chromosome 17q deletion
related
deletion 17q
related
distal 17q deletion
exact
distal monosomy type 17q
exact
monosomy 17q
related
monosomy 17qter
exact
partial monosomy 17q
related
telomeric deletion 17q
exact