Dicentric chromosome 13 and centromere inactivation

Stuart Schwartz, Catherine G. Palmer, David Weaver, Jean Priest

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

The karyotype of a child with dysmorphic findings suggestive of both trisomy 13 and the 13q-syndrome was found to have cells with one of two different dicentric chromosomes: one bearing a duplication of chromosome 13q [46,XX,-13, + psu dic(13)t(13;13)(pter→ce→q34::q34→pter)] and the other a deletion of 13q [46,XX,-13,+psu dic(13)t(13;13)(pter→cen→q22::q11→pter). Longitudinal cytogenetic studies in leukocytes demonstrated a loss of those cells possessing the small dicentric [psu dic(13)(q22;q11)], whereas fibroblasts from two separate skin biopsies contained only this marker. Q-band polymorphisms indicated that both dicentrics were of paternal origin, with the smaller dicentric derived from the larger via the bridge-breakage-fusion cycle. The presence of two active centromeres could not be confirmed in either dicentric.

Original languageEnglish
Pages (from-to)332-337
Number of pages6
JournalHuman Genetics
Volume63
Issue number4
DOIs
StatePublished - Jun 1983

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Chromosomes, Human, Pair 13
Centromere
Karyotype
Cytogenetics
Longitudinal Studies
Leukocytes
Fibroblasts
Chromosomes
Biopsy
Skin
Chromosome 13q trisomy
13q deletion syndrome
Trisomy 13 syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Dicentric chromosome 13 and centromere inactivation. / Schwartz, Stuart; Palmer, Catherine G.; Weaver, David; Priest, Jean.

In: Human Genetics, Vol. 63, No. 4, 06.1983, p. 332-337.

Research output: Contribution to journalArticle

Schwartz, S, Palmer, CG, Weaver, D & Priest, J 1983, 'Dicentric chromosome 13 and centromere inactivation', Human Genetics, vol. 63, no. 4, pp. 332-337. https://doi.org/10.1007/BF00274757
Schwartz, Stuart ; Palmer, Catherine G. ; Weaver, David ; Priest, Jean. / Dicentric chromosome 13 and centromere inactivation. In: Human Genetics. 1983 ; Vol. 63, No. 4. pp. 332-337.
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