โ Scribed by Milunsky, Jeffrey M.; Wyandt, Herman E.; Huang, Xin-Li; Kang, Xue-Zhen; Elias, Ellen R.; Milunsky, Aubrey
No coin nor oath required. For personal study only.
We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46W47,XX, + 15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infant died at 6 weeks of life. Peripheral lymphocyte chromosomes were "normal" 46,XX in 100 cells. Parental lymphocyte chromosomes were normal. Skin biopsy showed 47,xX,+15 in 80% of fibroblasts and results were equivalent in fibroblasts from autopsy lung tissue. Molecular analysis revealed maternal uniparental heterodisomy for chromosome 15 in the 46cell line. We describe an emerging phenotype of trisomy 15 mosaicism, confirm that more than one tissue should be studied in all cases of suspected mosaicism, and suggest that UPD be considered in all such cases.
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Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from only one parent. The bases are always two events, either two meiotic, or one meiotic and one mitotic, or two mitotic. An aberrant imprint, homozygosity of autosomal recessive gene mutations, homozygosity of Xchromosomal
## Trisomy 8 Mosaicism in a Patient With Tetraamelia To the Editor: Trisomy 8 is detected in 0.8% of spontaneous abortions . In neoplasias, especially in myeloid leukaemias, trisomy 8 is a frequent somatic aberration . In liveborn infants trisomy 8 almost always is a mosaic condition. The frequen
We report on a fetus with 47,XX,+15 chromosome abnormality detected on chorionic villus sampling (CVS). The pregnancy was terminated at 15.5 weeks of gestation and chromosome analysis done on amniocytes and fetal tissues showed a karyotype 4 6 m 47,XX,+ 15. Autopsy showed multiple abnormalities. Sho
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