Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

Shukla, Anju and Hebbar, Malavika and Kadavigere, Rajagopal and Girisha, KM (2016) Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome. American Journal of Medical Genetics- Part A. pp. 1-2. ISSN 1552-4825

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Deletions of 6q are known to be associated with variable clinical phenotypes including facial dysmorphism, hand malformations, heart defects, microcephaly, intellectual disability, epilepsy, and other neurodevelopmental and neuropsychiatric conditions. Here, we report a 7-year-old boy evaluated for facial dysmorphism, trigonocephaly, microcephaly, global developmental delay, and behavioral abnormalities. Molecular karyotyping revealed a 13-Mb deletion within 6q21-q22.31, (chr6:105,771,520-119,130,805; hg19, GRch37) comprising 81 genes. Review of 15 cases with interstitial 6q21-q22.3 deletion from the literature showed that facial dysmorphism, intellectual disability, and corpus callosum abnormalities are the most consistent clinical features in these individuals. Deleted genes and breakpoints in the 6q21-q22 region of the patient reported here are similar to two earlier reported cases with the clinical diagnosis of Acro-Cardio-Facial syndrome. However, the present case lacks characteristic clinical findings of Acro-Cardio-Facial syndrome. We discuss, the considerable phenotypic variability seen in individuals with 6q21-q22 microdeletion and emphasize the need for further scrutiny into the hypothesis of Acro-Cardio-Facial syndrome being a microdeletion syndrome.

Item Type: Article
Uncontrolled Keywords: 6q microdeletion; 6q21-q22 microdeletion; Acro-Cardio-Facial syndrome; corpus callosum abnormality; intellectual disability.
Subjects: Medicine > KMC Manipal > Paediatrics
Medicine > KMC Manipal > Radiology
Depositing User: KMC Library
Date Deposited: 17 Sep 2016 10:39
Last Modified: 17 Sep 2016 10:39

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