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.
(UPD) as the genetic basis of CAH has been reported in other forms of CAH.
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.