Mosaic trisomy 22

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Mosaic trisomy 22

Synonyms: Mosaic trisomy chromosome 22 | Trisomy 22 mosaicism

Mosaic trisomy 22 is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by prenatal and postnatal growth delay mild to severe intellectual disability hemiatrophy webbed neck ocular and cutaneous pigmentary anomalies craniofacial dysmorphic features (e.g. microcephaly upslanted palpebral fissures ptosis ear malformations flat nasal bridge micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus syn/brachydactyly) as well as renal and genital anomalies have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Mosaic trisomy 22?

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