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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...
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...
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...
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...
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...
A 32-year-old man with disproportionate short stature and striking facial dysmorphism came to genetic counseling as his wife was expecting their first child. In early infancy he had been diagnosed as having chondrodysplasia punctata, later regarded to be the autosomal dominant hereditary form....
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