Cryptic duplication of 12q24.33→qter in a child with Angelman syndrome—simultaneous occurrence of two unrelated cytogenetic events
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference40 articles.
1. Golgi matrix protein gene,Golga3/Mea2, rearranged and re-expressed in pachytene spermatocytes restores spermatogenesis in the mouse
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3. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?
4. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→qter)
5. Angelman syndrome: a review of the clinical and genetic aspects
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1. Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins;Molecular Syndromology;2019
2. 7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case;Molecular Syndromology;2017-11-24
3. Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA;Clinical Case Reports;2014-09-15
4. Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3;Annals of Laboratory Medicine;2011-01-01
5. Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability;Italian Journal of Pediatrics;2009-04-27
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