Distal duplication 14q
Synonyms: Telomeric duplication 14q | Trisomy 14qter
Distal trisomy 14q is a rare partial duplication of the long arm of chromosome 14 characterized by variable clinical features most commonly including growth retardation and low birth weight hypotonia developmental delay intellectual disability short stature microcephaly facial dysmorphism (frontal bossing hypertelorism bulbous nose micrognathia sparse hair and eyebrows) congenital heart defects spasticity and hyperreflexia.
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 April 2024
Newly diagnosed with
Distal duplication 14q?
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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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