Father And Daughter
Mostrando 25-35 de 35 artigos, teses e dissertações.
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25. Hemoglobin Grady: The First Example of a Variant with Elongated Chains Due to an Insertion of Residues
A black 25-year-old woman and her father have a fast-moving α chain variant in an amount of 8% (the father) and 18% (the daughter). Structural data indicate that this chain has been elongated by the addition of three amino-acid residues to give the sequence: -Pro(114)-Ala(115)-Glu(116)-Phe(117)-Thr(118)-Glu-Phe-Thr-Pro(119)-Ala(120)-.The underlying genetic
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26. Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.
A male infant, the offspring of a father-daughter mating, is described. He had a lethal condition consisting of brachycephaly, large fontanelles, a flat face, a small nose with thin nares, hypertelorism, small ears with cystic pinnae, camptodactyly, talipes equinovarus, and hypoplastic lungs and kidneys. The brain was very short in the anterior-posterior dia
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27. Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase
The mode of genetic transmission of human phosphoribosylpyrophosphate synthetase (ribosephosphate pyrophosphokinase; ATP:D-ribose-5-phosphate pyrophosphotransferase; EC 2.7.6.1) was studied in fibroblasts cultured from members of a family with a structurally and electrophoretically altered phosphoribosylpyrophosphate synthetase that has increased activity pe
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28. FRA18C: a new aphidicolin‐inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage
Fragile sites are specific genomic loci that form gaps, constrictions and breaks on chromosomes exposed to replication stress conditions. In the father of a patient with Beckwith‐Wiedemann syndrome and a pure truncation of 18q22‐qter, a new aphidicolin‐sensitive fragile site on chromosome 18q22.2 (FRA18C) is described. The region in 18q22 appears highl
BMJ Group.
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29. Cowden's Disease: Familial Goiter and Skin Hamartomas—A Report of Three Cases
Multiple hamartoma syndrome (Cowden's disease) consists of characteristic skin lesions of the face, mucous membranes and distal extremities in association with a variety of benign and malignant internal tumors, especially of the thyroid and breast. We describe a family in which the father, daughter and son were found to have goiter associated with the skin l
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30. Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).
We report on a father and daughter with a partial 9p duplication, dup(9)(p22p24). Their phenotype, albeit mild, is characteristic of partial trisomy 9p. Fluorescence in situ hybridisation (FISH) was used to characterise further and confirm the G banding finding. This is the first reported instance of trisomy 9p occurring in two successive generations. The du
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31. Familial right ventricular dysplasia with biventricular involvement and inflammatory infiltration. Heart Muscle Disease Study Group.
The aetiology of right ventricular dysplasia/cardiomyopathy is presently unknown. A genetic background has been suggested, but myocarditis may play a part in its pathogenesis. Two familial cases of right ventricular dysplasia, one of whom had also a diagnosis of myocarditis, are reported. Both patients presented with ventricular arrhythmias. The father subse
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32. ....Officiously to keep alive
The case of a patient with an incurable condition which was bound to deteriorate is discussed in the light of two conceptions of medical care: the first, the traditional one of treating with all the means at the doctor's disposal until death `wins', the other to `let go' of his skills for the greater good of the patient and his family. The second course was
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33. A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly
Studies in mouse and chick have shown that the 5′ HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5′ HOXD genes has recently been proposed to underlie the monodactyly and penoscrotal hypoplasia in two
The American Society of Human Genetics.
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34. A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family.
Significant hypertriglyceridemia with a very marked decrease of high density lipoproteins (HDL)-cholesterol levels (7-14 mg/dl) was detected in three members (father, son, and daughter) of an Italian family. The three affected individuals did not show any clinical signs of atherosclerosis, nor was the atherosclerotic disease significantly present in the fami
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35. On the death of a baby.
Andrew was a desperately premature baby weighing under two pounds. He died after months of "heroic' efforts in an intensive care facility. The story of his short cruel institutionalised life is a case study in the limits and excesses of modern medicine. The night he told us our son Andrew was about to die the doctor who had taken charge of him six months bef