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
A
Institute of Human Genetics, University Hospital Aachen, Aachen, Germany. aroos@ukaachen.de
Eggermann
T
T
Zerres
K
K
Schüler
H M
HM
D000026:Abortion, Habitual / Q000209:etiology* / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005190:Family; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D011110:Polymorphism, Genetic / Q000502:physiology*; D016615:Telomere / Q000235:genetics*; D014178:Translocation, Genetic