isodisomy


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isodisomy

[‚ī·sə‚dī′sō·mē]
(genetics)
A type of uniparental disomy in which two copies of the same chromosome are inherited from one parent, with resultant homozygosity at all gene loci on the chromosome.
References in periodicals archive ?
Verkarre et al., "Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism," The Journal of Clinical Endocrinology & Metabolism, vol.
D'Ajello et al., "Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome," Journal of Medical Genetics, vol.
Thomas et al., "Donnai-Barrow Syndrome (DBS/FOAR) in a Child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy," American Journal of Medical Genetics Part A, vol.
In addition, the technology can identify haploidy and many cases of uniparental isodisomy (UPiD), two additional types of chromosome abnormalities that may be missed on other PGS platforms.
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.
In a case of NIPT positive for trisomy 21, quantitative fluorescent (QF)-PCR of a CVS sample at 14 weeks' gestation suggested isodisomy type iUPD21 on the basis of 7 short tandem repeat (STR) markers all inherited from the mother.
Lane et al., "Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3," Clinical Genetics, vol.