Distal duplication 6p
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 September 2023.
Newly diagnosed with
Distal duplication 6p?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
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
For a list of clinical trials in this disease area, please click here.