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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Increased utilization of single nucleotide polymorphism (SNP) array in clinical practice has led to the recognition of uniparental isodisomy (UPD) that either disrupts imprinting patterns or unmasks autosomal recessive alleles (6).
However, the recurrence risk for CAH arising from UPD of a complete chromosome is considered much smaller owing to the mechanism underlying isodisomy formation.
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia
The inheritance of two copies of an identical chromosome is known as isodisomy, and results in whole chromosome ROH.
SNP genotyping with the next generation of CGH microarray
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.
Placental mesenchymal dysplasia
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.
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.
Genetic factors that might lead to different responses in individuals exposed to perchlorate
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.
Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR

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