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chromosome 22q deletion syndrome definition: Deletion of the long arm of chromosome 22 with variable dysmorphic features consisting of a round face, almond-shaped palpebral fissures, bulbous nose, malformed ears, hypotonia, short stature, mental retardation, and other anomalies. Deletion of the proximal long arm of chromosome 22 (22q11) has been associated with familial DiGeorge and velocardiofacial syndromes and terminal deletion was found in Goldenhar syndrome. Abnormalities of chromosome 22 are also suspected of being involved in the etiology of neoplastic diseases.
chromosome 22q duplication syndrome definition: Duplication of the long arm of chromosome 22. Clinical characteristics vary with the karyotype and may include craniofacial, ocular, and genital abnormalities and developmental delay.
 
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