Transmitted duplication of 12q21.32–12q22 includes 48 genes and has no apparent phenotypic consequences
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference10 articles.
1. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
2. Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome
3. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype
4. Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
5. Initial sequencing and analysis of the human genome
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1. First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa;Clinical Dysmorphology;2020-03-04
2. Novel Mutations and Unreported Clinical Features in KBG Syndrome;Molecular Syndromology;2019
3. References;Benign & Pathological Chromosomal Imbalances;2014
4. Contemplating effects of genomic structural variation;Genetics in Medicine;2008-09
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