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 http://www.orphadata.org. Data version May 2024
Newly diagnosed with
Non-distal duplication 13q?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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