Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference70 articles.
1. Partial trisomy 8 (trisomy 8q2106 leads to 8qter).
2. Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1.
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1. Structural Chromosome Rearrangements;The Principles of Clinical Cytogenetics;2012-08-30
2. A de novo 8q22.2-24.3 duplication in a patient with mild phenotype;European Journal of Medical Genetics;2012-01
3. De novo inverted interstitial duplication 8q22.1‐q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features;Advances in Mental Health and Learning Disabilities;2009-07-16
4. VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2);Clinical Genetics;2008-06-28
5. Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma;American Journal of Medical Genetics Part A;2006
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