Nonmosaic smallest duplication of 12q24.31-qter: The first reported case
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference13 articles.
1. Duplication 12q mosaicism in two unrelated patients with a similar syndrome
2. Partial trisomy 12q associated with a familial translocation
3. Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother
4. A female infant with pure duplication 12q24.2→qter
5. Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients
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1. The First Korean Case Report of Siblings with 12q24.22q24.33 Duplication;Keimyung Medical Journal;2024-06-15
2. Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype;Molecular Syndromology;2022
3. Non-invasive prenatal testing detects duplication abnormalities of fetal chromosome 12;European Journal of Obstetrics & Gynecology and Reproductive Biology;2020-10
4. Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins;Molecular Syndromology;2019
5. 7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case;Molecular Syndromology;2017-11-24
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