منابع مشابه
Double Autosomal Trisomy and Mosaicism
There have been relatively few reports of individuals with double autosomal trisomy (Gagnon et al., 1961; Becker, Burke, and Albert, 1963; Hsu et al., 1965; Marks, Wiggins, and Spector, 1967). There have been rather more published accounts of individuals showing trisomy for one autosome and an additional chromosome in the sex chromosome complement as well. Of these, only those with the sex chro...
متن کاملDouble autosomal trisomy (trisomy D+G) with mosaicism.
The patient, a male, the seventh child of a 37-year-old father and a 34-year-old Caucasian mother, was the product of a pregnancy complicated by massive polyhydramnios. The mother previously had had two miscarriages. During the present pregnancy she had not had any infections or X-irradiation. There was no family history of congenital malformations, mental retardation, leukaemia, autoimmune dis...
متن کاملNew human double trisomy or tetrasomy.
Several studies have been reported on the cytogenetic analysis of spontaneous abortions (Aspillage et al., 1966; Boue, Boue, and Lazar, 1967; Carr, 1967; Clendenin and Benirschke, 1963; Hall and Kallen, 1964; Inhorn, Therman, and Patau, 1964; Rashad and Kerr, 1965; Singh, Rubinoff, and Carr, 1966; Szulman, 1965; Thiede and Salm, 1964; Thiede and Metcalfe, 1966; Waxman, Arakaki, and Smith, 1967)...
متن کاملTrisomy 21 and Rett syndrome: a double burden.
Rett syndrome is a severe neurodevelopmental disorder generally affecting girls. Affected individuals are apparently normal at birth but later pass through a period of regression with loss of hand and communication skills and the development of hand stereotypies and dyspraxia. Mutations in the methyl-CpG binding protein 2 (MECP2) gene, have now been found to cause Rett syndrome in up to 80% of ...
متن کاملEosinophilic leukaemia with trisomy 8 and double gammopathy.
Prolonged eosinophilia of unknown cause has generally been described as the hypereosinophilic syndrome, and is characterised by peripheral blood and bone marrow infiltration and frequent multisystem disease. The nature of this disorder has been questioned, and the clinical features are quite variable, suggesting its heterogeneity and probable neoplastic aetiology. A patient with severe eosinoph...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 2003
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.a.20340