t(15;21)(q15;q22.1)pat Resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring

Dvorah Abeliovich, Judith Dagan, Israela Lerer, Shira Silberstein, Mariassa Bat Miriam Katznelson, Moshe Frydman

Research output: Contribution to journalArticlepeer-review

Abstract

Two sibs, carriers of unbalanced products of the translocation t(15;21)(q15;q22.1)pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1). The translocation breakpoint on chromosome 21 was located proximal to the SOD1 gene, within a region of 4.0 cM (2.3 Mb) between the loci D21S217 and D21S213. The correlations between the clinical presentation and the molecular findings of the two sibs are discussed in relation to other patients with partial trisomy and monosomy 23.

Original languageEnglish
Pages (from-to)45-51
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume66
Issue number1
DOIs
StatePublished - 2 Dec 1996
Externally publishedYes

Keywords

  • D21S213
  • D21S217
  • Prader-Willi syndrome
  • duplication 15(pter > q15)
  • partial monosomy 21
  • partial trisomy 21
  • translocation breakpoint

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