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Article

Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes.

Journal of cellular and molecular medicine - 1 Feb 2023

Ajami Naser, Kerachian Mohammad Amin, Toosi Mehran Beiraghi, Ashrafzadeh Farah, Hosseini Susan, Robinson Peter N, Abbaszadegan Mohammad Reza

Abstract excerpt

We describe a 3.5-year-old Iranian female child and her affected 10-month-old brother with a maternally inherited derivative chromosome 9 [der(9)]. The postnatally detected rearrangement was finely characterized by aCGH analysis, which revealed a 15.056 Mb deletion of 9p22.3-p24.3p22.3 encompassing 14 OMIM morbid genes such as DOCK8, KANK1, DMRT1 and SMARCA2, and a gain of 3.309 Mb on 18p11.31-p11.32 encompassing...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36691971
DOI: 10.1111/jcmm.17662
PMCID: PMC9930415

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