Article
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.
Molecular genetics & genomic medicine - 1 Jan 2025
Kashevarova A A, Lopatkina M E, Vasilyeva O Yu, Fedotov D A, Lobanov A D, Fonova E A, Zhalsanova I Z, Zarubin A A, Salyukova O A, Belyaeva E O, Petrova V V, Ravzhaeva E G, Agafonova A A, Cheremnykh A D, Torkhova N B, Vovk S L, Lebedev I N
Abstract excerpt
BACKGROUND: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance. METHODS: Patients were investigated by performing a cytogenetic analysis of GTG-banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES....
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