Results 151 to 160 of about 55,941 (207)
Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21. [PDF]
Front PediatrChen H +10 more
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Paternal Age and the Risk of Trisomy 21.
JAMA PediatrZhou Q, Zhao G, Yang X, Tu X, Li X.
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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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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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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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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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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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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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Thrombocytopenia in Neonates With Trisomy 21
Archives of Pediatrics & Adolescent Medicine, 1995Trisomy 21 is associated with an increased incidence of hematologic disorders such as polycythemia, transient myeloproliferative disorder, and acute leukemia.1There are only rare reports in the literature of an association with isolated neonatal thrombocytopenia.2-5Based on consultations for mild thrombocytopenia in otherwise well newborns with trisomy
J D, Hord, J C, Gay, J A, Whitlock
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