Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype

Pi Lin Sung, Sheng Ping Chang, Kuo Chang Wen, Chia Ming Chang, Ming Jie Yang, Lin Chao Chen, Kuan Chong Chao, Chi Ying F. Huang, Yueh Chun Li, Chyi Chyang Lin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Small supernumerary marker chromosomes (sSMC) originating from chromosome 10 are rare. Only seven cases have been documented, and among those three cases were diagnosed prenatally. We reported on another prenatal diagnosis of a de novo mosaic sSMC in an apparently normal female fetus whose mother had conceived with assisted reproductive technology (ART) procedures. G-banding analysis of amniotic cells was performed. Spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) studies with chromosome 10-specific alphoid satellite DNA probe were used to identify the chromosome 10 origin of the sSMC. Further FISH study with telomeric sequence probes showed that the sSMC lacked a hybridization signal, suggesting that the marker could be a ring chromosome. FISH studies using BAC clone probes specific for the regions within 10p11.2, 10q11.1, and 10q11.2 showed that the short arm breakpoint was located between 29.8 and 30.7Mb from the 10p telomere, and that the long arm breakpoint was located less than 43.6Mb from the 10p telomere. The karyotype of the fetus was 47,XX,+mar. ish der(10)(SKY+CEP 10+, CTD-2130I7+, RP11-89J23-)/46,XX. Oligonucleotide microarraybased copy number variations (CNV) analysis was also performed and showed a 6.7Mb duplication from 10p11.2 to 10q11.2 (36.2-42.9Mb) with Affymetrix SNP-array 6.0 genotype: arr cgh. 10p11.2q11.2(CN-519687→CN- 541524) X 3. At the 1-year follow-up, the baby did not have any findings of the trisomy 10p syndrome. This observation provided further credence to the concept that additional chromosome material of proximal 10p11.2 may not contribute to the trisomy 10p syndrome phenotype.

Original languageEnglish
Pages (from-to)2768-2774
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 2009


  • Fluorescence in situ hybridization (FISH)
  • Genome-wide oligonucleotide microarray
  • Marker chromosome 10
  • Small supernumerary marker chromosomes (sSMCs)
  • Spectral karyotyping (SKY)
  • Trisomy 10p syndrome


Dive into the research topics of 'Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype'. Together they form a unique fingerprint.

Cite this