Mosaic trisomy 2

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Mosaic trisomy 2

Synonyms: Mosaic trisomy chromosome 2 | Trisomy 2 mosaicism

Mosaic trisomy 2 is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by intrauterine growth restriction growth and motor delay craniofacial dysmorphism (e.g. microcephaly hypertelorism micro/anophthalmia midface hypoplasia cleft lip/palate) congenital heart and neural tube defects as well as various skeletal (e.g. scoliosis radioulnar hypoplasia preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly thin corpus callosum spina bifida) 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 Data version April 2024

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Mosaic trisomy 2?

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