3q26.33–3q27.2 microdeletion: A new microdeletion syndrome?
نویسندگان
چکیده
منابع مشابه
Chromosome 15q24 microdeletion syndrome
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...
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Disorders related to the autosomal transcription factor MEF2C located in 5q14.3 were first described in 2009 and have since evolved to one of the more common microdeletion syndromes. Mutational screening in a larger cohort revealed heterozygous de novo mutations of MEF2C in about 1% of patients with moderate to severe intellectual disability, and the phenotype is similar in patients with intrag...
متن کاملA microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally.
We report on a patient who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal hypoglycaemias, macroglossia and overgrowth, but in whom no 11p15 abnormality could be found. Follow-up showed continued overgrowth and disturbed glucose homeostasis, a marked developmental delay, and severe behavioural problems especially caused by anxieties. Array comparative g...
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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2013
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2013.01.005