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Distal monosomy 17q
MONDO:0015562Distal 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, 17q deletion, 17q monosomy, chromosome 17q deletion, deletion 17q
2 clinical trials for this condition and its sub-types.
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Disease
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Human disease
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Chromosomal disorder
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Disease of genetic or genomic mechanism
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Autosomal anomaly
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Chromosome 17 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 17
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Partial deletion of the long arm of chromosome 17
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Syndrome caused by partial chromosomal deletion
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