Results 211 to 220 of about 81,827 (263)
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Clinical Genetics, 1973
Five patients showing several stigmata of Down's syndrome and a partial trisomy of chromosome 21 are reported. Three patients with only a moderate degree of mental retardation had an additional deleted chromosome 21; the characteristic dark G‐band region of the long arm of 21 was missing.
P, Aula, J, Leisti, H, von Koskull
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Five patients showing several stigmata of Down's syndrome and a partial trisomy of chromosome 21 are reported. Three patients with only a moderate degree of mental retardation had an additional deleted chromosome 21; the characteristic dark G‐band region of the long arm of 21 was missing.
P, Aula, J, Leisti, H, von Koskull
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Clinical Genetics, 1980
This report presents an 18½‐year‐old patient with clinical features of Down syndrome and severe mental retardation due to partial trisomy 21. Cytogenetic studies using Giemsa banding chromosomes revealed translocation of the 21q21 qter segment onto the short arms of chromosome #8 (46,XY,−8, +t(8qter 8p23::21q21 21 qter)).
S M, Pueschel +2 more
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This report presents an 18½‐year‐old patient with clinical features of Down syndrome and severe mental retardation due to partial trisomy 21. Cytogenetic studies using Giemsa banding chromosomes revealed translocation of the 21q21 qter segment onto the short arms of chromosome #8 (46,XY,−8, +t(8qter 8p23::21q21 21 qter)).
S M, Pueschel +2 more
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2019
This chapter reviews the incidence, recurrence risk, etiology, and chromosomal nature of Down syndrome(DS) or trisomy 21. Prenatal screening methodologies are outlined including serum screening, nuchal translucency measurements and cell free DNA. The common US findings in DS including “soft” signs are reviewed.
Robin D. Clark, Cynthia J. Curry
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This chapter reviews the incidence, recurrence risk, etiology, and chromosomal nature of Down syndrome(DS) or trisomy 21. Prenatal screening methodologies are outlined including serum screening, nuchal translucency measurements and cell free DNA. The common US findings in DS including “soft” signs are reviewed.
Robin D. Clark, Cynthia J. Curry
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The Indian Journal of Pediatrics, 2002
A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infant with developmental delay and failure to thrive. Patient had all classical phenotypical features of trisomy 21 except, absence of epicanthal folds. The diagnosis was confirmed by cytogenetic study performed on peripheral blood leucocyte culture using G ...
Ramesh C, Parmar +2 more
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A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infant with developmental delay and failure to thrive. Patient had all classical phenotypical features of trisomy 21 except, absence of epicanthal folds. The diagnosis was confirmed by cytogenetic study performed on peripheral blood leucocyte culture using G ...
Ramesh C, Parmar +2 more
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Recurrences of trisomy 18 and trisomy 13 after trisomy 21
Human Genetics, 1989Between 40 years and 43 years of age, a woman had three consecutive pregnancies with different prenatally diagnosed autosomal trisomies. This is compatible with the view that the predisposition to non-disjunction is not chromosome-specific.
D R, FitzPatrick, E, Boyd
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Trisomy 21 and trisomy 18 in half-siblings
Humangenetik, 1975Trisomy 18 was detected ante-natally in a woman who had a trisomy 21 offspring in a previous marriage. It is possible that in some women there is a predisposition to nondisjunction. © 1975 Springer-Verlag.
David, Timothy +2 more
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Progressive Myopathy in Trisomy 21
Neuropediatrics, 1988A 23-year-old female patient with clinical manifestations typical of Down's syndrome progressively developed intensifying weakness of the proximal muscles from the age of 16 years. CK levels were distinctly elevated. Electromyography showed myogenic lesions and muscle biopsy a myopathic image with extensive fibre hypertrophy.
U, Mielke, K, Schimrigk, H, Edlinger
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1981
Various cytogenetic studies of early spontaneous abortions have observed trisomy 21 in about 3% of the abortuses. Analyses of prenatal diagnosis performed during the 17th week of gestation and observations on late spontaneous abortions and perinatal deaths have also shown the importance of lethal trisomy 21 in the second half of pregnancy.
J, Boué +3 more
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Various cytogenetic studies of early spontaneous abortions have observed trisomy 21 in about 3% of the abortuses. Analyses of prenatal diagnosis performed during the 17th week of gestation and observations on late spontaneous abortions and perinatal deaths have also shown the importance of lethal trisomy 21 in the second half of pregnancy.
J, Boué +3 more
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Archives francaises de pediatrie, 1979
Three mentally retarded children with partial trisomy 21 who looked like children with complete trisomy 21 had increased activity of superoxide dismutase A. This emphases the pathogenic role of the 21q22 band in this condition.
J F, Mattéi +5 more
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Three mentally retarded children with partial trisomy 21 who looked like children with complete trisomy 21 had increased activity of superoxide dismutase A. This emphases the pathogenic role of the 21q22 band in this condition.
J F, Mattéi +5 more
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Archives of Oral Biology, 1971
Abstract The prevalence of dental caries in subjects with trisomy 21 (TR) was determined on a nationwide basis in New Zealand for subjects aged 5–24 yr. Caries prevalence was based on the examination of 416 TR subjects, and compared with that of 432 other mentally retarded (MR) and 697 normal (N) subjects.
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Abstract The prevalence of dental caries in subjects with trisomy 21 (TR) was determined on a nationwide basis in New Zealand for subjects aged 5–24 yr. Caries prevalence was based on the examination of 416 TR subjects, and compared with that of 432 other mentally retarded (MR) and 697 normal (N) subjects.
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