Podruch P E, Yen F S, Dinno N D, Weisskopf B
J Med Genet. 1982 Oct;19(5):377-80. doi: 10.1136/jmg.19.5.377.
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.
一名患有Y染色体长臂末端缺失（Yq--）的儿童表现出明显的网状青斑、塌鼻、小头畸形、身材矮小及其他畸形特征。他存在严重智力发育迟缓。大多数Yq-患者据报道有不同程度的畸形特征、智力发育迟缓及身材矮小。该患儿除上述情况外，还有网状青斑和小头畸形。他出生体重正常，因此不属于小头畸形、塌鼻、网状青斑及低出生体重侏儒综合征。应获取更多关于Yq-的信息，以确定是否存在一致的异常模式。
