Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

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PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

(2009) T Y Tan et al.   JOURNAL OF MEDICAL GENETICS

Genetic Compensation in a Human Genomic Disorder

(2009) Nadège Carelle-Calmels et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study

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