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Chromosome 2 trisomy syndrome. Trisomy 2 mosaicism syndrome.

Incidence

Rare condition, sporadic. All reported cases of trisomy 2 are mosaic.

Clinical Characteristics

Presence of an additional (third) chromosome in an otherwise diploid chromosome complex with variable multiple congenital abnormalities consisting of craniofacial dysmorphism, genital malformation, hand and foot deformities, growth retardation, growth delay, congenital heart defects, and other anomalies.

Precipitants

None

Provocation Tests

None

Diagnostic Procedures

Karyotype. Presence of an additional (third) chromosome in an otherwise diploid chromosome.

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