A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

Jill K. Northup, Reuben Matalon, Lillian Lockhart, Judy C. Hawkins, Gopalrao V N Velagaleti

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the " Runt related transcription factor 2 (RUNX2)" gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization.

Original languageEnglish (US)
JournalEuropean Journal of Medical Genetics
Volume54
Issue number4
DOIs
StatePublished - Jul 2011

Fingerprint

Cleidocranial Dysplasia
Chromosomes, Human, Pair 6
Chromosomes
Bacterial Artificial Chromosomes
Comparative Genomic Hybridization
Chromosomes, Human, Pair 2
Fluorescence In Situ Hybridization
Hispanic Americans
Transcription Factors
Clone Cells
Genes

Keywords

  • ACGH
  • Cleidocranial dysplasia
  • FISH
  • Insertion
  • Inversion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia. / Northup, Jill K.; Matalon, Reuben; Lockhart, Lillian; Hawkins, Judy C.; Velagaleti, Gopalrao V N.

In: European Journal of Medical Genetics, Vol. 54, No. 4, 07.2011.

Research output: Contribution to journalArticle

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