isodisomy


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isodisomy

A rare chromosomal defect in which a chromosome pair has two identical segments from one parent and no corresponding segment from the other parent.

isodisomy

see UNIPARENTAL DISOMY.
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However, the presence of the same paternal haploid complement in both cell lines suggests paternal uniparental isodisomy and involvement of only a single egg and sperm nucleus.
In one patient with classic TIOD, a homozygous deletion in exon 14 appeared to have resulted from partial maternal isodisomy of the short arm of chromosome 2 carrying the defective TPO gene (Bakker et al.
1 The high probe density provides broad coverage of constitutional, cancer, OMIM and RefSeq genes on a single array and allows detection of gene-level, copy-neutral LOH, uniparental isodisomy, and regions identical by descent.
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.