Results 141 to 150 of about 81,066 (200)
Reduction of Cystatin B results in increased cathepsin B activity in disomic but not Trisomy 21 human cellular and mouse models. [PDF]
PLoS OneWu Y, Cleverley K, Wiseman FK.
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Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells. [PDF]
Hum Mol GenetLee SE +8 more
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First trimester Down\u92s syndrome screening The role of biochemistry [PDF]
Ranta-Ylikulju, Jenni
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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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