Biomedical subjects
D Borgaonkar
Publications and source records attributed to D Borgaonkar.
Heart disease associated with deletion of the short arm of chromosome 18.
Deletion of the short arm of chromosome 18 provides a highly variable phenotype. Mental retardation, short stature, and abnormal facies are invariably present. About 9 percent of patients with this syndrome have cardiac pathology. An additional case with congenital heart disease has been presented along with a review of the literature concerning the association of congenital heart disease and the 18p- syndrome.
Trisomy 13 update.
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Familial erythroleukemia: four cases of the Diguglielmo syndrome in close relatives.
Erythroleukemia was diagnosed in three brothers during a 6-month period in 1976. A son of one leukemic had died 5 years earlier with erythroleukemia. First-degree relatives of these men were evaluated in an attempt to identify contributing factors. Twenty-four relatives have been studied. Immunoglobulin M was elevated in 14 of 16 persons (mean, 352.8 mg/dl; normal, less than 145 mg/dl; P less than .001). This was neither a monoclonal protein nor rheumatoid factor. Age-dependent red cell enzymes were increased. Erythrocyte hexokinase was markedly increased in 23 of 24 persons (mean, 35.05 units/100 ml RBC; normal, less than 18 units; P less than .001). Evidence for a hemolytic state was absent. Bone marrow samples in 8 first-degree relatives were normal. Cytogenetics were normal in 18 relatives. One leukemic exhibited hypoploidy and a marker chromosome. The association of an immunoglobulin abnormality and enzymopathy in the leukemics and relatives alike suggests a hereditary susceptibility to the development of erythroleukemia. The exact link is not identified.
Order of genes for NP and TRPRS on chromosome 14.
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47,XYY and 46,XY males with antisocial and/or sex-offending behavior: antiandrogen therapy plus counseling.
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