Article
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.
Genes, chromosomes & cancer - 1 Feb 2021
Pastorczak Agata, Hogendorf Anna, Urbanska Zuzanna, Budzynska Edyta, Jesionek-Kupnicka Dorota, Gach Agnieszka, Hawula Wanda, Smigiel Robert, Skiba Pawel, Sasiadek Maria, Lejman Monika, Constatinou Maria, Lipska-Ziętkiewicz Beata S, Mlynarski Wojciech
Abstract excerpt
Microdeletions of 7p12.1 encompassing the IKZF1 gene locus are rare, with few cases reported. The common phenotype includes intellectual disability, overgrowth, and facial dysmorphism accompanied, albeit rarely, by congenital anomalies. Haploinsufficiency of IKZF1 predisposes individuals to childhood acute lymphoblastic leukemia (ALL). In this study, we comprehensively analyzed the frequency of 7p12.1 deletions...
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