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Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly skeletal dysplasia...
In 492 cases of reciprocal translocations in balanced carriers, the 984 breakpoints were studied for a possible relationship to the 45 fragile sites. Random coincidence was predicted at 14% and the observed coincidence was 14.3%, indicating that the two events are unrelated. However, chromosomes...
Linkage studies using restriction fragment length polymorphisms were conducted in the X-linked disorder, choroideremia, designated TCD for Progressive Tapeto-Choroidal Dystrophy. Previously demonstrated close linkage with locus DXYS1 was confirmed (lod 11.44 at 0 recombination distance). In...
Three individuals, ascertained for differing reasons, were found to have extra material in the proximal long arm of chromosome 15. The abnormal offspring of one of these also carried this chromosome. The extra material appears identical in all four individuals. The occurrence of this variant in...
We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low-set, cup-shaped ears, thick, protruding lower lip, micrognathia, and mental retardation. We conclude that these patients...
Two siblings with a partial duplication 16q, born to a woman with a balanced translocation (6; 16), are described. The first infant died at 8 weeks of age; the second died at 4 months. Fifteen other cases of duplications involving 16q have been reported, all of them derived from a balanced...
We describe six generations of a family with an autosomal dominant condition combining different degrees of trichodysplasia and xeroderma.
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