Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization

Clin Genet. 2005 Aug;68(2):146-51. doi: 10.1111/j.1399-0004.2005.00466.x.

Abstract

We describe the structure of a supernumerary marker in a child who presented with a right atretic ear and multiple congenital anomalies. Using G-banding, fluorescent in situ hybridization (FISH), P1 artificial chromosome FISH and high-resolution comparative genomic hybridization (CGH), the marker was demonstrated to be a derivative chromosome resulting from malsegregation of a paternal 8;22 translocation: 47,XY, +der(22)t(8;22)(q24.1; q11.2). This case is noteworthy because the marker, while sharing similarities to der(22) in the Cat Eye syndrome (CES), also contains chromosome 8q material. This partial 8q trisomy confounds the diagnosis of CES associated with pure trisomy or pure tetrasomy 22q. The paternal translocation is noted with prolonged infertility and oligospermia, which again highlights the utility and necessity of chromosome analysis in this setting.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Artificial, Human
  • Chromosomes, Human, Pair 22*
  • Chromosomes, Human, Pair 8*
  • Genetic Markers*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Nucleic Acid Hybridization
  • Translocation, Genetic*
  • Trisomy / diagnosis*
  • Trisomy / genetics

Substances

  • Genetic Markers