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A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9

✍ Scribed by Patricia N. Howard-Peebles; Gayle R. Stoddard


Publisher
Springer
Year
1976
Tongue
English
Weight
265 KB
Volume
34
Category
Article
ISSN
0340-6717

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A centric fission of chromosome 9 was found in a boy with trisomy 9p resulting from a de novo del (9p) and a 9p isochromosome. The patient presented with clinical findings similar to those described in previously reported cases of trisomy 9p. The cytogenetic evaluation and the molecular analysis usi

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A girl with 46, XX, de1 (11) (q23), inv (9) (p13,q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13,q13)).

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We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaicism in the placenta and maternal UPD(9) in the feta