Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q.

Roos, A

Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q. [electronic resource] - American journal of medical genetics. Part A Mar 2008 - 795-8 p. digital

Publication Type: Case Reports; Evaluation Study; Journal Article

1552-4833

10.1002/ajmg.a.32222 doi


Abortion, Habitual--etiology
Adult
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 1
Family
Female
Genetic Testing--methods
Humans
Polymorphism, Genetic--physiology
Telomere--genetics
Translocation, Genetic