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19 Possible Causes for Some Pedigrees Are Consistent with Autosomal Dominant Inheritance

  • Kearns-Sayre Syndrome

    Cardiac conduction disease affects patients with Kearns-Sayre syndrome. We report a young asymptomatic patient with Kearns-Sayre syndrome with abnormal conduction on electrocardiogram and Holter monitor, although not advanced atrioventricular block. She underwent prophylactic pacemaker placement, and rapidly[…][ncbi.nlm.nih.gov]

  • Polycystic Ovary Syndrome

    The pedigrees were consistent with dominant inheritance, probably autosomal because in 1 kindred the disorder was apparently transmitted through a father and son.[web.archive.org] Some men of the families had low plasma testosterone and had abnormally high LH-FSH ratio as in the women.[web.archive.org]

  • Constitutional Anemia due to Iron Metabolism Disorder

    Autosomal recessive inheritance has not been demonstrated to date, but some pedigrees are consistent with that mode of inheritance.[bloodjournal.org] […] conception of subsequent children often do so while simultaneously selecting an HLA-identical donor for the DBA patient. 23 Parental genetic screening reduces the risk of dominant[bloodjournal.org]

  • Hamartoma

    Genetics Many cases (two-thirds) occur sporadically but numerous reported pedigrees are consistent with autosomal dominant inheritance.[disorders.eyes.arizona.edu] Most hamartomas are benign but renal carcinoma has been reported in some patients.[disorders.eyes.arizona.edu]

  • Diamond-Blackfan Anemia

    Autosomal recessive inheritance has not been demonstrated to date, but some pedigrees are consistent with that mode of inheritance.[bloodjournal.org] […] conception of subsequent children often do so while simultaneously selecting an HLA-identical donor for the DBA patient. 23 Parental genetic screening reduces the risk of dominant[bloodjournal.org]

  • Renal Angiomyolipoma

    Genetics Many cases (two-thirds) occur sporadically but numerous reported pedigrees are consistent with autosomal dominant inheritance.[disorders.eyes.arizona.edu] Most hamartomas are benign but renal carcinoma has been reported in some patients.[disorders.eyes.arizona.edu]

  • Congenitally Short Costocoracoid Ligament

    The pedigree supports an autosomal dominant mode of inheritance with variable expression.[ncbi.nlm.nih.gov] Surgical treatment consists of excision of the costocoracoid ligament and resulted in some correction of the cosmetic deformity.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 57

    Few were consistent with a dominant inheritance pattern, although pseudo-dominant autosomal inheritance cannot be excluded (three families; 12%).[nature.com] The majority of these showed a probable AR inheritance with multiple affected individuals (15 families; 60%), whereas some pedigrees featured only one patient despite the[nature.com]

  • Autosomal Recessive Spastic Paraplegia Type 18

    Few were consistent with a dominant inheritance pattern, although pseudo-dominant autosomal inheritance cannot be excluded (three families; 12%).[nature.com] The majority of these showed a probable AR inheritance with multiple affected individuals (15 families; 60%), whereas some pedigrees featured only one patient despite the[nature.com]

  • Roifman Syndrome

    In some of these pedigrees, the inheritance pattern seems autosomal dominant, while in others it is consistent with autosomal recessive or X linked recessive. 2 Recently,[jmg.bmj.com] The latter may lead to premature secondary osteoarthritis with significant morbidity. 1 SED may occur sporadically; however, in many cases the family history indicates an inherited[jmg.bmj.com]

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