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

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 primari...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2023-07, Vol.191 (7), p.1978-1983
Main Authors: Polonis, Katarzyna, Lopes, Jaime L., Cabral, Huong, Babcock, Holly E., Kline, Laura, Ruiz, Kaylee M., Schwartz, Stuart, Hasadsri, Linda, Rowsey, Ross A., Hoppman, Nicole L.
Format: Article
Language:English
Subjects:
Aneuploidy
Chromosome 7
Chromosome 9
Chromosome Aberrations
Chromosomes
double
Female
Genomic Imprinting
Humans
Male
Methylation
Phenotype
Phenotypes
triple UPD
Trisomy
Uniparental disomy
Uniparental Disomy - genetics
UPD
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Summary: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.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.63224