Synonyms: Distal trisomy 6p | Telomeric duplication 6p | Trisomy 6pter
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation a pattern of specific facial features (mostly of the eyes) microcephaly and developmental delay.
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 2026
Newly diagnosed with
Distal duplication 6p?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
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