Mosaic trisomy 14

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Mosaic trisomy 14

Synonyms: Mosaic trisomy chromosome 14 | Trisomy 14 mosaicism

Mosaic trisomy 14 is a rare chromosomal anomaly disorder with a highly variable phenotype principally characterized by growth and developmental delay intellectual disability body asymmetry/hypotonia congenital heart defects genitourinary abnormalities (cryptorchidism micropenis large clitoris labial swelling) and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly abnormal palpebral fissure hypertelorism ear abnormalities broad nose low-set ears micro/retro-gnathia and cleft or highly arched palate.

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 March 2024

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Mosaic trisomy 14?

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Clinical Trials

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