Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen

Simone Schuffenhauer, Albrecht Kobelt, Cornelia Daumer-Haas, Christine Löffler, Gisela Müller, Jan Murken, Thomas Meitinger

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

Karyotypes with an interstitial deletion and a marker chromosome formed from the deleted segment are rare. We identified such a rearrangement in a newborn infant, who presented with macrocephaly, asymmetric square skull, minor facial anomalies, omphalocele, inguinal hernias, hypospadias, and club feet. The karyotype 46,XY, del(5) (pter → p13::cen → qter)/47,XY,+dicr(5) (:p 13 → cen::p13 → cen), del(5)(pter → p 13::cen → qter) was identified by banding studies and FISH analysis in the peripheral lymphocytes. One breakpoint on the del(5) maps distal to GDNF, and FISH analysis using an α- satellite probe suggests that the proximal breakpoint maps within the centromere. The dicentric r(5) consists of two copies of the segment deleted in the del(5), resulting in trisomy of proximal 5p (5p13-cen). The phenotype of the propositus is compared with other trisomy 5p cases and possible mechanisms for the generation of this unique chromosomal rearrangement are discussed.

Original languageEnglish
Pages (from-to)56-59
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume65
Issue number1
DOIs
StatePublished - 2 Oct 1996
Externally publishedYes

Keywords

  • centromere
  • chromosome 5
  • dicentric ring chromosome
  • partial trisomy

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