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10.1002/ajmg.1320300416.abs We repost on a 13‐yr‐old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in >75% od cases) of this condition include nasal and maxillary hypoplasia,...
10.1002/ajmg.1320300406.abs We report on the segregation of a cytogenetically non‐deleted ring chromosome 11 and café‐au‐lait spots in a family. This appears to be the largest inherited ring autosome yet reported.
10.1002/ajmg.1320300409.abs Chromosome analysis with high‐resolution banding showed a small de novo interstitial deletion of chromosome 2(p21 → p22.2) in an infant with holoprosencephaly. This is the first such observation. There is a well‐known association with abnormalities of chromosome...
10.1002/ajmg.1320300408.abs This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the...
10.1002/ajmg.1320300412.abs The term ermine phenotype has been chosen to describe patients with white hair with black tufts. The patients also have sensorineural hearing loss. This rare phenotype may come about either by failure of migration of melanocytes or by an autoimmune mechanism. Examples...
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