Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype

Molecular analysis of chromosome 21 in a

Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype

✍ Ahlbom, Bodil Edman; Goetz, Peter; Korenberg, Julie R.; Pettersson, Ulf; Seemano 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB

Down syndrome (DS) is caused in most cases by the presence of an extra chromosome 21. It has been shown that the DS phenotype is produced by duplication of only a small part of the long arm of chromosome 21, the 21q22 region, including and distal to locus D21S55. We present molecular investigations