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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Distal duplication 6p?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
For a list of clinical trials in this disease area, please click here.