The Autosomal Dominant Mode of Inheritance

1969 ◽  
pp. 16-23
Author(s):  
Walter Fuhrmann ◽  
Friedrich Vogel
Keyword(s):  
Autosomal Dominant ◽  
Dominant Mode ◽  
Mode Of Inheritance

scholarly journals The May-Hegglin Anomaly: Platelet Function, Ultrastructure and Chromosome Studies

Blood ◽  
1968 ◽  
Vol 32 (6) ◽  
pp. 950-961 ◽  
Author(s):  
JEANNE M. LUSHER ◽  
JOHN SCHNEIDER ◽  
I. MIZUKAMI ◽  
RUTH K. EVANS
Keyword(s):  
Platelet Function ◽  
Autosomal Dominant ◽  
Dominant Mode ◽  
Bleeding Tendency ◽  
Function Defect ◽  
Father And Son ◽  
Mode Of Inheritance

Abstract A father and son with the May-Hegglin anomaly were studied. Both were asymptomatic, although the father had a mild thrombocytopenia and a probable platelet thromboplastic function defect. Possible mechanisms for the bleeding tendency observed in approximately one-fourth of the persons with this anomaly are discussed. The autosomal dominant mode of inheritance is again demonstrated, and both father and son were found to have normal chromosomes.

scholarly journals The Hairy Family of Burma: A Four Generation Pedigree of Congenital Hypertrichosis Lanuginosa

1996 ◽  
Vol 89 (7) ◽  
pp. 403-408 ◽  
Author(s):  
J Bondeson ◽  
A E W Miles
Keyword(s):  
Nineteenth Century ◽  
Autosomal Dominant ◽  
Dominant Mode ◽  
Good Evidence ◽  
Show Business ◽  
Mode Of Inheritance

A Burmese family with congenital hypertrichosis lanuginosa had an eventful history in the nineteenth century. The earlier members of this family were employed at the court of Ava, but the later ones spent their lives in show business, being widely exhibited for money in the 1880s. Their extraordinary hairiness attracted much curiosity, and they were photographed several times. The hairy Burmese are the only example of a four-generation pedigree of congenital hypertrichosis lanuginosa, which is consistent with an autosomal dominant mode of inheritance. There is good evidence that, when the members of this family were hairy, their dentition was also deficient.

scholarly journals Osteoglophonic Dysplasia: Phenotypic and Radiological Clues

2017 ◽  
Vol 06 (04) ◽  
pp. 247-251 ◽  
Author(s):  
Shwetha Kuthiroly ◽  
Dhanya Yesodharan ◽  
Aneesh Ghosh ◽  
Kenneth White ◽  
Sheela Nampoothiri
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Autosomal Dominant ◽  
Bone Age ◽  
Dominant Mode ◽  
Bone Lesions ◽  
Activating Mutations ◽  
Radiological Features ◽  
Proven Case ◽  
Mode Of Inheritance

AbstractOsteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula. She had hypophosphatemia, which is a known association in this dysplasia. She also had advanced bone age, which is an unreported feature of this dysplasia. This condition is caused by activating mutations in FGFR1. A missense mutation was detected in the FGFR1, NM_001174067 (FGFR1_v001):c.1115G > A [p.(Cys372Tyr)] confirming the diagnosis; this is the first mutation-proven case to be reported from India.

scholarly journals A new variant of spondylometaphyseal dysplasia with autosomal dominant mode of inheritance.

1982 ◽  
Vol 19 (2) ◽  
pp. 104-109 ◽  
Author(s):  
J M Garcia-Castro ◽  
C M Isales-Forsythe ◽  
P Diaz de Garau
Keyword(s):  
Autosomal Dominant ◽  
Dominant Mode ◽  
New Variant ◽  
Spondylometaphyseal Dysplasia ◽  
Mode Of Inheritance

scholarly journals Novel glucokinase mutation in a boy with maturity-onset diabetes of the young

2008 ◽  
Vol 136 (9-10) ◽  
pp. 542-544 ◽  
Author(s):  
Tatjana Milenkovic ◽  
Dragan Zdravkovic ◽  
Katarina Mitrovic
Keyword(s):  
Autosomal Dominant ◽  
Molecular Level ◽  
Dominant Mode ◽  
Maturity Onset Diabetes ◽  
Primary Defect ◽  
Glucokinase Gene ◽  
Onset Diabetes ◽  
Heterogenous Group ◽  
Glucokinase Mutation ◽  
Mode Of Inheritance

INTRODUCTION Maturity-onset diabetes of the young (MODY) is a heterogenous group of disorders characterized by an early onset of insulin-independent diabetes mellitus, an autosomal dominant mode of inheritance and a primary defect in beta-cell. There are six subtypes of MODY. MODY2 and MODY3 are the most frequent. CASE OUTLINE We present a nine-year-old boy with intermittent hyperglycaemia. According to family history, the diagnosis of MODY2 was suspected. Molecular analysis revealed novel missense mutation R250c in exon 7 of glucokinase gene. Mutation (c.748 C>T) is the result of substitution of aminoacid cysteine by arginine (p.Arg250Cys). This is the first pediatric patient with MODY2 in Serbia whose diagnosis is established at molecular level. CONCLUSION Molecular diagnosis of MODY has important consequences in terms of prognosis, therapy and family screening of the disorder. Investigation of other patients with MODY2 in our country is important to establish prevalence and nature of mutations in glucokinase gene.

scholarly journals Carney complex - multiple endocrine neoplasia syndrome

2012 ◽  
Vol 58 (3) ◽  
pp. 22-30 ◽  
Author(s):  
E M Orlova ◽  
M A Kareva
Keyword(s):  
Giant Cell ◽  
Multiple Endocrine Neoplasia ◽  
Autosomal Dominant ◽  
Carney Complex ◽  
Dominant Mode ◽  
Endocrine Neoplasia ◽  
Hereditary Syndrome ◽  
Endocrine Organs ◽  
Multiple Endocrine Neoplasia Syndrome ◽  
Mode Of Inheritance

Carney complex is a rare hereditary syndrome characterized by an autosomal-dominant mode of inheritance and associated with multiple neoplasias affecting endocrine organs. The typical manifestations of this syndrome include pigmented micronodular adrenal dysplasia, lentiginosis, heart and skin myxomas, giant cell sertoliomas, and some other neoplasias. To date, a few hundred patients with this pathology have been described worldwide. A review of the available data about Carney complex is presented.

STIFF SKIN SYNDROME

PEDIATRICS ◽  
1971 ◽  
Vol 47 (2) ◽  
pp. 360-369
Author(s):  
Nancy B. Esterly ◽  
Victor A. McKusick
Keyword(s):  
Early Childhood ◽  
Connective Tissue ◽  
Physical Examination ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Dominant Mode ◽  
Acid Mucopolysaccharide ◽  
Joint Mobility ◽  
Mode Of Inheritance ◽  
Stony Hard

Four patients are described with localized areas of stony-hard skin, mild hirsutism, and limitation of joint mobility. In three of these individuals the disorder was congenital and, in the fourth, it was first noticed in early childhood. No other abnormalities have been observed on repeated physical examination. Biopsies of affected skin show abnormal amounts of hyaluronidase-digestible acid mucopolysaccharide in the dermis. Fibroblast cultures from one individual demonstrated marked increase in intracellular metachromatic material. None of the patients had increased excretion of mucopolysaccharide in the urine. The occurrence of this disorder in a mother and two children suggests an autosomal dominant mode of inheritance. It is postulated that these patients manifest a connective tissue disorder possibly resulting from an abnormality of mucopolysaccharide metabolism.

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