Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation.
A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.
D001827:Body Height; D002648:Child; D002872:Chromosome Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009666:Nose / Q000002:abnormalities; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014652:Vascular Diseases / Q000235:genetics*; D014998:Y Chromosome