Article
Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.
American journal of medical genetics. Part A - 1 Nov 2016
Shukla Anju, Hebbar Malavika, Harms Frederike L, Kadavigere Rajagopal, Girisha Katta M, Kutsche Kerstin
Abstract excerpt
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....
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