Non-distal duplication 13q

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Non-distal duplication 13q

Synonyms: Non-distal trisomy 13q | Non-telomeric trisomy 13q

Non-distal trisomy 13q is a rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly depressed nasal bridge stubby nose low-set malformed ears cleft lip/palate micrognathia). Strabismus clinodactyly and undescended testes in males may also be associated.

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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Non-distal duplication 13q?

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