Results 191 to 200 of about 9,097 (228)
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Paternal normal/trisomy 21 mosaicism as an indication for amniocentesis
Clinical Genetics, 1974Normal/trisomy 21 mosaicism was demonstrated in the father of a girl with Down's syndrome. During the next pregnancy, amniocentesis and karyotyping of the fetus were conducted. The fetus proved to be healthy.
Z, Papp +3 more
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Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism
Archives of Gynecology and Obstetrics, 1994A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells).
L H, Tseng +3 more
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G480(P) Case report: Mosaic trisomy 21 turner syndrome
Archives of Disease in Childhood, 2016Background We present the case of a female infant with mosaic trisomy 21/Turners syndrome (45 X0, 47 XX +21). Phenotypic features at birth were consistent with Trisomy 21. Her postnatal course was complicated by transient abnormal myelopoiesis which has resolved on follow up.
K McCarthy, AS Griffiths, N McCallion
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Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21
Prenatal Diagnosis, 1995AbstractMosaicism for the Wolf‐Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non‐mosaic trisomy 21 in a 16‐week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise.
M C, Phelan +3 more
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Satellite associations and NOR staining in mitoses of trisomy 21 mosaicism
Human Genetics, 1980The pattern of acrocentric chromosomes was studied in 190 normal and 190 trisomic cells from a patient with trisomy 21 mosaicism. No significant differences were observed in the total numbers of associations, the numbers of mitoses with one, two, or three associations, or the numbers of associations in which more than two acrocentric chromosomes were ...
H, Zankl, H, Nagl
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DISCRIMINANT DIAGNOSIS OF 21‐TRISOMY MOSAICISM
Journal of Intellectual Disability Research, 1976D, Loesch, C A, Smith
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TRISOMY 21 MOSAICISM AND MATERNAL AGE EFFECT
The Lancet, 1987G B, Peters, J H, Ford, J K, Nicholl
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Constitutional mosaic trisomy 21 and azoospermia: a case report.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2006Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been explored. We report a case with low level mosaic trisomy 21 in a non-syndrome but azoospermic patient.
Guo-hui, Lu +5 more
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Trisomy 21 mosaicism in two subjects from two generations.
Annales de genetique, 1992In the course of a chromosome fragility investigation on the cancer prone hereditary disorder xeroderma pigmentosum, a low proportion of cells with a 47,XY,+21 karyotype was found in lymphocyte cultures of a patient not showing any Down syndrome symptom.
Casati A +8 more
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