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  • Title: A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
    Author: Shimojima K, Okamoto N, Yamamoto T.
    Journal: Congenit Anom (Kyoto); 2018 Jan; 58(1):36-38. PubMed ID: 28378413.
    Abstract:
    Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects. The identified 10.4-Mb deletion included 84 RefSeq genes. CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or intellectual disability), respectively. Because there is no gene which shows one-to-one relation to clinical features observed in this patient, combinatory deletion of the genes in this region would be causative of the clinical features in this patient.
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