Uniparental disomy of multiple chromosomes in two cases with a complex phenotype

Katarzyna Polonis, Jaime L. Lopes, Huong Cabral, Holly E. Babcock, Laura Kline, Kaylee M. Ruiz, Stuart Schwartz, Linda Hasadsri, Ross A. Rowsey, Nicole L. Hoppman

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Uniparental disomy (UPD) is the inheritance of both chromosomal homologs from one parent. Depending on the chromosome involved and the parental origin, UPD may result in phenotypic abnormalities due to aberrant methylation patterns or unmasking recessive conditions in isodisomic regions. UPD primarily originates from somatic rescue of a single meiotically-derived aneuploidy, most commonly a trisomy. Double UPD is exceedingly rare and triple UPD has not been previously described. Here, we report two unrelated clinical cases with UPD of multiple chromosomes; an 8-month-old male with maternal isodisomy of chromosome 7 and paternal isodisomy of chromosome 9, and a 4-week-old female with mixed paternal UPD for chromosomes 4, 10, and 14. These cases also demonstrate that although extremely rare, the detection of AOH on two or more chromosomes may warrant additional clinical and laboratory investigation such as methylation and STR marker analysis, especially when involving chromosomes known to be associated with imprinting disorders.

Original languageEnglish
Pages (from-to)1978-1983
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume191
Issue number7
DOIs
StatePublished - Jul 2023

Keywords

  • UPD
  • double
  • triple UPD

Fingerprint

Dive into the research topics of 'Uniparental disomy of multiple chromosomes in two cases with a complex phenotype'. Together they form a unique fingerprint.

Cite this