Project 8p is a patient-led nonprofit organization that is researching 8p disorders to find treatment options and give meaningful answers to those affected and their families.
Ring14 USA & Ring 14 International are patient-led nonprofit organizations that are researching ring 14 disorders to find treatment options and give meaningful answers to those affected and their families.
Dup15q Alliance empowers individuals living with dup15q syndrome and other related rare diseases to reach their full potential by advancing breakthrough research and life-changing therapeutic treatments, promoting advocacy and supporting families affected by dup15q syndrome.
The content on this website is based on version May 12, 2022
Chromosome 8p is a rare genetic condition with approximately 350 patients around the world and counting. Right now, science does not have the means to treat this condition. The good news is that the scientific community is making substantial progress and together with Project 8p, we are going to do everything we can to help.
Associated symptoms and findings may vary greatly in range and severity from case to case. Intellectual disability, congenital heart defects, epilepsy, autism, agenesis of corpus collosum, and sensory processing disorders are some of the diagnoses found with a Chromosome 8p karyotype. Common features include growth deficiency; cognitive impairments; mild malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes inner corners (epicanthal folds); heart (cardiac) abnormalities. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia).
The majority of 8p individuals have developmental delays including disordered acquisition of cognitive and social competence and delays in reaching developmental milestones. In most cases, Chromosome 8, appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons and are not inherited. Recently, we have found families where the mutation has also been inherited but different manifestations of the symptoms.
Ring14 indicates an alteration of chromosome 14, which acquires a ring shape because the two ends, one of the long arm and the other of the short arm, join together. This joining takes place as a result of two breaking events at the end of each arm, which generally involves a partial loss of genetic material of chromosome 14. This chromosomal abnormality can affect every cell or be mosaic with a cell line that has lost a complete chromosome 14 (monosomy 14).
Ring14 chromosome damage is associated with a number of frequent signs and symptoms and results in a disease characterized by both syndromic intellectual disability in addition to multiple phenotypic abnormalities. The diagnosis of Ring14 is obtained through a simple chromosome analysis.
Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results from the duplication (or multiplication) of a portion of chromosome 15. Each chromosome has unique regions or bands that contain genes, and each band is labeled numerically. The extra genetic material known as Dup15q Syndrome contains the bands on chromosome 15 at the q arm labeled 11.2-13.1. It can span past these bands but must contain the 11.2 – 13.1 region to be identified as Dup15q Syndrome. These duplications most commonly occur in one of two forms. These include an extra isodicentric 15 chromosome, abbreviated idic(15), or an interstitial duplication 15, abbreviated int dup(15).
Chromosome 15 is one of the 23 pairs of chromosomes in humans. Humans are born with 2 copies of each chromosome – 1 from the mother (maternal) and 1 from the father (paternal). Depending on which parental chromosome the extra genetic material is on, symptoms may present differently. In most cases of chromosome 15q11.2-13.1 duplication syndrome, the chromosome duplication is not inherited, but de novo, which means the multiplication occurred as a random event during early embryonic development.
There are many other genetically derived names that are commonly used in the diagnosis for dup15q syndrome, including; 15q11.2-q13.1 duplication syndrome, Inverted duplication 15 (inv dup15), Partial trisomy 15, Isodicentric chromosome 15 syndrome [Idic(15)], Supernumerary marker chromosome 15 (SMC15), Partial tetrasomy 15q, etc. All of these names describe the genetics of 'dup15q syndrome'.
genome assembly GRCh37 (hg19)
This is the beta version of the NDD-CNV Portal.
We are developing the NDD-CNV portal to facilitate genetic test interpretation, research and education for Neurodevelopmental CNVs. The NDD-CNV Portal webtool displays expert-curated CNV datasets alongside biomedical annotations, user-friendly analytics, and educational resources.
Marie Macnee (1), Eduardo Pérez-Palma (2), Arthur Stefanski (3), Alina Ivaniuk (4), Bina Shah (5), Yssa DeWoody (6), Vanessa Vogel-Farley (7), Glennis A. Logsdon (8), Evan E. Eichler (8,9), Dennis Lal (1,3,10), Commission on Novel Technologies for Neurodevelopmental CNVs
(1) Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne, Germany. (2) Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile. (3) Genomic Medicine Institute & Epilepsy Center, Cleveland Clinic, Cleveland, OH, USA. (4) Odessa National Medical University, Odessa, Ukraine. (5) Project 8p Foundation, New York, New York, USA. (6) Ring14 USA and Ring14 International, Midland, Texas, USA. (7) 9Dup15q Alliance, Highland Park, Illinois, USA. (8) Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. (9) Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. (10) Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
The NDD CNV portal does not involve human subjects. We use as reference datasets copy number variants from public resources such as databases and published research studies, in which individual investigators or organizations have consented their individuals. For example, the NDD-CNV portal contains individual copy-number variant (CNV) data from ClinVar, which is de-identified and publicly available (https://www.ncbi.nlm.nih.gov/clinvar/). CNV data from gnomAD (https://gnomad.broadinstitute.org/downloads) and UKBiobank (https://biobankenginedev.stanford.edu/downloads) are aggregated and de-identified data. The submitters of all databases had obtained appropriate consent for data sharing. A detailed list of the individual studies used in the NDD-CNV portal is provided below.
No medical advice. All data here are publicly for the benefit of the wider biomedical community. You can freely explore the data, and we encourage the use and publication of results generated from these data. However, we encourage you to contact us before embarking on analyses to check if your proposed analysis overlaps with work currently underway by our team. Further, we request that you actively acknowledge and give attribution to the NDD-CNV Portal project, and link back to the relevant page, wherever possible. All users of our data agree to not attempt to reidentify participants. Our data set has been subjected to extensive quality control, but may be imperfect so errors may remain. If you spot any results that seem impossible, or have suggestions for NDD-CNV Portal improvements contact us:
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We object to any commercial use and disclosure of data.
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