Further family with autosomal dominant patent ductus arteriosus.
نویسندگان
چکیده
1 Caine ED, Shoulson T. Psychiatric syndrome in Huntington's disease. AmJPsychiatry 1983; 140:728-33. 2 Seeman P, Niznik HB, Guan HC, et al. Link between DI and D2 dopamine receptor is reduced in schizophrenia and Huntington's disease brain. Proc Natl Acad Sci USA 1989; 86:10156-60. 3 MacDonald ME, Ambrose CM, Duyao MP, et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72:971-83. 4 Read AP. Huntington's disease: testing the test. Nature Genet 1993;4:329-30. 5 Warner JP, Barron LH, Brock DJH. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993;7:235-9. 6 Barron LH, Warner JP, Porteous M, et al. A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. JMed Genet 1993;30:1003-7. 7 Spitzer RH, Endicott J, Robins E. Research diagnostic criteria for a selected group of functional disorders. 3rd ed. New York: New York State Psychiatric Institution, Biometrics Res Div, 1987.
منابع مشابه
A large family with patent ductus arteriosus and unusual face.
A large family is described in which patent ductus arteriosus in association with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal dominant inheritance with incomplete penetrance with respect to the PDA. The facial features included a broad, high forehead, flat profile, and short nose with a broad, flattened tip.
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The occurrence of isolated persistent ductus arteriosus in three generations of one family with surgical correction is described. The high incidence of the malformation in this family suggests autosomal dominant inheritance rather than a polygenic mode of inheritance.
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Patent ductus arteriosus (PDA) is a persistent patency of a vessel normally present in the fetus that connects the pulmonary arterial system to the aorta. The ductus arteriosus fails to close at birth when breathing commences and placental blood circulation is removed. Closure of the ductus arteriosus arises in response to decline pulmonary vascular resistance and increased systemic vascular re...
متن کاملEpidemiologic and genetic studies of congenital heart disease in the dog.
The prevalence rate for cardiovascular malformations in dogs presented to a large university veterinary clinic was 6.8 per 1000. Patent ductus arteriosus, as in man, was found predominantly in females. Breed-specific prevalence rates were significantly greater in purebred dogs than in mongrek, and the breed distributions of patent ductus arteriosus, pulmonic stenosis, subaortic stenosis, persis...
متن کاملChar syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.
BACKGROUND Patent ductus arteriosus (PDA) is a relatively common form of congenital heart disease. Although polygenic inheritance has been implicated, no specific gene defects causing PDA have been identified to date. Thus, a positional cloning strategy was undertaken to determine the gene responsible for the Char syndrome, an autosomal dominant disorder characterized by PDA, facial dysmorphism...
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Zellweger syndrome (ZS) is a rare autosomal recessive inherited disorder within the spectrum of peroxisome biogenesis disorders. It is a progressive and fatal disorder with multiple congenital anomalies. There may be some challenges for anesthesiologists in patients with ZS. We report the anesthetic management of an infant with ZS undergoing closure of patent ductus arteriosus and pulmonary art...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 31 8 شماره
صفحات -
تاریخ انتشار 1994