Department of Medical and Molecular Genetics Works

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    Sister-chromatid exchange in 4 human races
    (Elsevier, 1981-09) Butler, Merlin G.; Department of Medical and Molecular Genetics, IU School of Medicine
    The frequencies of sister-chromatid exchanges (SCE) were investigated in lymphocytes in 32 normal adult individuals of both sexes with no interracial familial backgrounds from Caucasian, American black, oriental and native American races. There was no significant difference in the average frequency of SCEs in the 4 races.
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    Prader-Willi syndrome: are there population differences?
    (Wiley, 1982-11) Butler, Merlin G.; Weaver, David D.; Meaney, F. John; Medical and Molecular Genetics, School of Medicine
    A 15 1/2-year-old black female with features consistent with the Prader-Willi syndrome is reported. This is the second case report of a black individual and the first case of a black female with the Prader-Willi syndrome. There is an apparent paucity of blacks reported with this condition. Whether this difference is a true difference or represents under-reporting is not known. We urge reporting of individuals representing other racial groups with this disorder and suggest population studies to determine the incidence as well as the true population difference in the Prader-Willi syndrome.
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    A Child With Radius Aplasia, Cleft of Lip and Palate, Microcephaly, and Unusual Chromosome Findings
    (Wiley, 1982-12) Butler, Merlin G.; Russell, Laura J.; Palmer, Catherine G.; Bull, Marilyn; Hodes, M.E.; Medical and Molecular Genetics, School of Medicine
    We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft of lip and palate, who was mosaic for a chromosome marker and/or ring of unknown origin. In view of the reported cases of limb deficiency with chromosome abnormalities and the unlikelihood that the patient has a recognized genetic syndrome, the cause of the patient’s syndrome may well be the extra chromosomal material.
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    Brief clinical report: prune belly syndrome in an anencephalic male
    (Wiley, 1983-01) Hodes, M.E.; Butler, Merlin G.; Keitges, Elisabeth A.; Mirkin, L. David; Wills, Edward R.; Medical and Molecular Genetics, School of Medicine
    We describe a postmature anencephalic infant with atrophy of the abdominal musculature (prune belly syndrome). Other associations of these conditions are noted.
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    Parental origin of chromosome 15 deletion in Prader-Willi syndrome
    (Elsevier, 1983-06-04) Butler, Merlin G.; Palmer, Catherine G.; Medical and Molecular Genetics, School of Medicine
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    A Possible Etiology of the Infertile 46XX Male Subject
    (Elsevier, 1983-07) Butler, Merlin G.; Walzak, Myron P.; Sanger, Warren G.; Todd, Curtis T.; Medical and Molecular Genetics, School of Medicine
    We report on an infertile male patient with the predominant 46XX female karyotype. A testicular biopsy revealed widely separated testicular tubules, absence of sperm formation and large numbers of Leydig cells. Chromosome studies, including measurements of the X chromosomes, showed a significant difference between the lengths of the short arm of the 2 X chromosomes. This information lends support for an X-Y chromosome interchange as the etiology of this syndrome. The clinical features of this rare syndrome and other theories of etiology of XX male subjects are discussed.
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    Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings
    (Wiley, 1984-04) Reed, Terry; Butler, Merlin G.; Medical and Molecular Genetics, School of Medicine
    Dermatoglyphic findings were compared in 38 Prader-Willi syndrome (PWS) patients and 270 normal controls. Twenty-one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent deviations that can be used in the clinical evaluation of PWS patients. These include a displacement of the axial triradius away from the normal proximal position, an excess of whorls primarily on the thumbs, radial termination of the palmar A mainline, and lack of arches on the big toe. Deletion PWS patients were much more homogeneous than non-deletion cases with respect to plantar patterns. The previously reported deficit of plantar pattern intensity was restricted only to deletion PWS and was characterized by a lack of plantar interdigital II-IV patterns with almost exclusively hallucal distal loops.
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    Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome)
    (Wiley, 1984-05-18) Butler, Merlin G.; Hodes, M.E.; Conneally, P.M.; Biegel, Angenieta A.; Wright, James C.; Department of Medical and Molecular Genetics, IU School of Medicine
    Schmidt syndrome (PGA syndrome type II) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred. Association of HLA-B8 has been reported with Schmidt syndrome. Our proband is a 12-year-old boy with Addison disease, insulin dependent diabetes mellitus (IDDM), and vitiligo. Two of his eight sibs had either IDDM (sister) or vitiligo and hyperthyroidism (brother). His mother had hypothyroidism. Seven members of earlier generations apparently were also affected. We obtained peripheral blood for HLA and genetic analysis from 21 relatives in a family with 8 Schmidt syndrome individuals in three generations. HLA studies on 15 affected and unaffected relatives showed only 2 of 7 persons with B8-containing haplotypes. Therefore, no association exists between the B8-containing haplotype and the syndrome. We identified informative marker loci. No evidence for linkage of the Schmidt locus to any of the 14 markers was found and close linkage to esterase D and adenylate kinase and possibly properdin factor B was excluded.
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    Metacarpophalangeal Pattern Profile Analysis in Sotos Syndrome
    (Wiley, 1985-04) Butler, Merlin G.; Meaney, F. John; Kittur, Smita; Hersh, Joseph H.; Hornstein, Lusia; Medical and Molecular Genetics, School of Medicine
    The metacarpophalangeal pattern profile (MCPP) was analyzed on 16 Sotos syndrome patients. A mean Sotos syndrome profile was produced. Correlation studies confirm clinical homogeneity of Sotos syndrome individuals. Discriminant analysis of Sotos syndrome patients and normal individuals produces a function of two MCPP variables and age, which may provide a useful tool for diagnosis.
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    Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. A follow-up report on 38 cases
    (Wiley, 1985-07) Butler, Merlin G.; Meaney, F. John; Medical and Molecular Genetics, School of Medicine
    Metacarpophalangeal pattern profile (MCPP) was determined on 38 Prader-Willi syndrome individuals and compared with a previous report on 16 patients. Chromosome analysis showed an interstitial deletion of the long arm of chromosome 15 in 20 subjects and normal chromosome results in the remaining 18 individuals. The mean hand profile of 38 individuals was essentially flat while the profiles for the two groups based on chromosome findings were separate in the metacarpal area. Correlation studies confirmed the homogeneity of the deletion group relative to Prader-Willi syndrome individuals with normal chromosomes. Discriminant analysis of Prader-Willi syndrome versus control individuals produced a function of three MCPP variables plus age which may be applied as another diagnostic tool.