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In this report we describe the association of retinitis pigmentosa, hearing loss and vitiligo in two non-related patients. The second patient developed, in addition, an axonal polyneuritis after the age of 30. Previous reports dealing with this unusual combination of symptoms are discussed.
Subjects drawn from a population-based register were studied with respect to lipid level association. The association of isoforms of apolipoprotein E (apoE) with lipid level in the general population was found to be limited to people with one particular genotype at the low density lipoprotein...
Serum cholinesterase 2 (CHE2) was examined in a Danish material of normal families that has been tested earlier for 70–78 classical marker systems and 25 RFLP systems. DNA for RFLP typing was provided by transforming 16-year-old frozen lymphocytes. The frequency of allele CHE2*C5 + in the...
Fifteen cases of the de Lange syndrome are presented. Personal and family histories, clinical features, detailed radiological findings, laboratory data, chromosome studies and dermatogly-phic patterns are reported. A Negro patient and his autopsy findings are described. Radiological diagnostic...
A case of pure 12p trisomy was discovered in a 14-year-old boy during a cytogenetic survey of Egyptian students attending a school for mentally retarded children. The patient had a normal birth weight but later showed developmental delay. Clinical examination at 14 years of age revealed a high...
Expression of the hexosaminidase isozymes was evaluated in fibroblast cell lines obtained from two sibs of Lebanese-Christian origin who presented with juvenile-onset Tay-Sachs disease. In the normal control fibroblasts the α subunit of hexosaminidase A (hex A) is synthesized as a 67 KD...
In a series of 34 patients with defects of the radial ray, 24 individuals had additional clinical manifestations. A firm syndromic diagnosis could be reached in 17 persons (TAR syndrome 4, Holt-Oram syndrome 8, Fanconi anaemia 2, VATER association 2, Radial ray-choanal atresia 1). In the...
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