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- W214993025 abstract "Karyotype analysis of a 3-day-old child referred for clinical evaluation of Down syndrome was originally reported as normal 46,XX. The child had many features of Down syndrome, including a leukemoid reaction at birth. Because of the strongly suggestive clinical features, and a slightly unusual appearance of the short arm of one chromosome 21, FISH analysis was carried out using a probe specific for the 21q22.3 region (ONCOR). Signal was seen as expected in the distal long arm of both chromosomes 21, but also in the short arm with the morphological variant. DNA analysis with a number of long arm probes confirmed the presence of duplication of a large portion of band 21q22. Parental karyotypes were normal. The mother of this case had declined amniocentesis. However, it is very likely that routine prenatal chromosome analysis would not have detected the duplication, since the short arm was not strikingly different from many normal variants. Only screening with a 21q22 FISH probe (interphase or metaphase) would have predicted the Down syndrome in this child." @default.
- W214993025 created "2016-06-24" @default.
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- W214993025 date "1994-09-01" @default.
- W214993025 modified "2023-09-24" @default.
- W214993025 title "Identification by FISH of 21q22 duplication in patient with Down syndrome and apparent 46,XX karyotype" @default.
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