Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
نویسندگان
چکیده
منابع مشابه
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.
The 5q31.3 microdeletion syndrome has recently emerged as a distinct clinical entity, and we report two new patients with de novo deletions of this region, bringing the total to seven. Similarly to previously reported cases, the phenotype of our patients is characterized by marked hypotonia, apnea, developmental delay, and feeding difficulties. Both patients had abnormal movements which did not...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2008
ISSN: 1755-8166
DOI: 10.1186/1755-8166-1-18