Chromosome 8p Deletion Syndrome is a chromosome abnormality that affects many different parts of the body, People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell, The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved, Most cases are not inherited, although affected people can pass the deletion on to their children, The treatment of Chromosome 8p Deletion Syndrome is based on the signs and symptoms present in each person, Chromosome 8p Deletion Syndrome is a rare congenital disorder. DS Stage I Plasma Cell Myeloma DS Stage II Plasma Cell Myeloma DS … Les grandes délétions peuvent résulter d'erreurs d'enjambement lors de la méiose, d'un enjambement inégal (crossing-over inégal), d'une cassure2 sans réparation ou de pertes associées à un chromosome dérivé d'une translocation. MYC rearrangements are rare in MGUS and smoldering MM, but are present in about 15% of active MM, in 45% of relapsed and refractory MM and in practically all MM cell lines. A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosum. Chromosome Deletion X. X chromosome deletions appear to segregate into two specific regions: POI1 at Xq26-qter and POI2 at Xq13.3–Xq21.1.93,94 There are various proposed mechanisms by which X chromosome defects cause POI. We want to hear from you. 8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a region from human chromosome 8. In 1976, a characteristic chromosomal translocation involving chromosomes 8 and 14 was discovered in Burkitt's lymphoma. The data suggest that defects or deficiency or ankyrin are responsible for HS at the SPH2 locus. Aide au Codage pour Q935 Autres délétions partielles d'un chromosome - CCAM et CIM10 en Français. Chromosome 8 spans about 145 million base pairs and represents between 4.5 and 5.0% of the total DNA in cells. Broader (2) Chromosomes, Human, Pair 8 Monosomy. Deletion of the end of the short arm of chromosome 5 (5p minus, usually paternal) is characterized by a high-pitched, mewing cry, closely resembling the cry of a kitten, which is typically heard in the immediate neonatal period, lasts several weeks, and then disappears. Wu, B. L., Schneider, G. H., Sabatino, D. E., Bozovic, L. Z., Cao, B., & Korf, B. R. (1996). Source: Orphanet (Remove filter) languages. People normally have two copies of this chromosome. What is chromosome? Chromosome 8 is one of the 23 pairs of chromosomes in humans. About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. This means that Chromosome 8, partial deletion (short arm), or a subtype of Chromosome 8, partial deletion (short arm), … 2016 May;113(5):1084-93. doi: 10.1002/bit.25876. One chromosome has the normal length and the other is too short. The signs and symptoms of recombinant 8 syndrome are related to the loss of genetic material on the short arm of chromosome 8 and the presence of extra genetic material on the long arm of chromosome 8. The remaining half of individuals have breakpoints that are scattered along the arm of the chromosome. This is the deletion of a segment of the short arm of the chromosome of about 25 genes, affecting one of the pair of chromosome 16 in each cell. Entschlüsselung des Chromosoms 8. Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23. The causes of Chromosome 8p Deletion Syndrome may include the following: The signs and symptoms of Chromosome 8p Deletion Syndrome are determined by the amount of genetic material deleted and the genes in the deleted region. A rearrangement of chromosome 8 causes recombinant 8 syndrome, a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. Deletions of chromosome 8 (as a sole abnormality or in association with other chromosomal defects) are described in ~770 patients. Digilio, M. C., Marino, B., Guccione, P., Giannotti, A., Mingarelli, R., & Dallapiccola, B. Associated symptoms and findings may be variable and may depend on the specific size and location of the deleted segment of 7p. This rearrangement results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. La Chromosome 18 Registry and Research Society (Société pour la recherche et l’enregistrement des anomalies du chromosome 18, Europe) est une association caritative créée pour réunir les familles européennes concernées par une anomalie du chromosome 18, afin qu’elles puissent partager informations et expériences. Furthermore, signs and symptoms of Chromosome 8 deletion may vary on an individual basis for each patient. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Click on the gene name for detailed information. We report on a 5-month-old boy with a de novo interstitial deletion of the proximal short arm of chromosome 8 (p21p11.2). Chromosome 6 Deletions: A chromosome 6 deletion is a rare disorder in which some of the genetic material that makes up one of the body’s 46 chromosomes – specifically chromosome 6 in this case – is missing. The trisomy 8 chromosome change is one of the common abnormalities associated with MDS. Chromosome 8 Abnormalities. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome.. Distal 8p deletion (8p23. A human cell has one pair of identical chromosomes on chromosome 1. The breakpoints are located at chromosome bands 8p12 and 8p21.2. The complications of Chromosome 8p Deletion Syndrome may include: Complications may occur with or without treatment, and in some cases, due to treatment also. The parents’ chromosomes have been checked and no deletion or other chromosome change has been found at 8p23. La plupart des délétions 18 concernent le bras court du chromosome, on parle alors de délétion 18p. (cf. Stevens et al. Claeys, I., Holvoet, M., Eyskens, B., Adriaensens, P., Gewillig, M., Fryns, J. P., & Devriendt, K. (1997). This region shows a significant divergence between human and chimpa We now show that the ankyrin gene maps to chromosome 8pll.2, and that one copy is missing from DNA of two unrelated children with severe HS and heterozygous deletions of chromosome 8 (del(8Xpll-p21.1)). 8 Chromosome Disorder 1. The treatment is usually given to manage the signs and symptoms and any complication that develops. Like most other chromosome disorders, this increases the risk of birth defects, developmental delay and learning difficulties. The three cases are with a complex karyotype. American journal of medical genetics, 74(5), 515-520. Also, not having a risk factor does not mean that an individual will not get the condition. Four previous case reports with similar deletions (p11.1p21) … Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the short arm (p) of chromosome 7 (7p). Pour Maëlyne la délétion est située sur la partie haute du bras long du chromosome , et plus exactement entre la région 18q11 et 18q12. If you do not want your question posted, please let us know. For healthy development, chromosomes should contain just the right amount of … She can not feel pain, hunger, and the requirement of sleep. Nombre de paires de base : 146 274 826; Nombre de gènes : 794; Nombre de gènes connus : 692; Nombre de pseudo gènes : 364; Nombre de variations des nucléotides (S.N.P ou single nucleotide polymorphisme): 432 757 Anomalies chromosomiques décrites au niveau du chromosome 8 Gènes localisés sur le chromosome 8 (2010) reported a 2-year-old boy with multiple congenital cardiac malformations, dysmorphic facies, and severe mental retardation associated with a heterozygous complex chromosome 8 consisting of a 16.9-Mb deletion of 8pter-p22 and a 21.7-Mb duplication of 8q24.13-qter. Chromosome analysis suggested a deletion within chromosome 8p. PMID 8822909 : Molecular anatomy of chromosome 7q deletions in myeloid neoplasms: evidence for multiple critical loci. The severity of the condition and the signs and symptoms depend on the size … We want to hear from you. Individuals born with this syndrome often have delayed development, intellectual disability, and autism spectrum disorder. Always seek professional medical advice about any treatment or change in treatment plans. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Chromosome disorders Weiying Jiang Department of Medical Genetics P33 3. Questions sent to GARD may be posted here if the information could be helpful to others. Distal 18q deletion syndrome is caused by a deletion of genetic material from one copy of chromosome 18 anywhere between a region called 18q21 and the end of the chromosome. Type in the Search box e.g. Chromosome 8q22.3 is a rare chromosomal disorder in which there is deletion of part of the long arm (q) of chromosome 8. Deletions on a segment of chromosome 11 are associated with autism, attention problems and obesity, according to a study published in the June issue of the American Journal of Medical Genetics Part A 1.. Also, ring chromosome, del 6q, del 6q16, del 6p22 and insertion in the proximal end on the p arm are some of the common types of the structural chromosomal aberration associated with chromosome 6. Affected neonates are hypotonic and have low birth weight, Caractéristiques du chromosome 8. Genomic profile of copy number variants on the short arm of human chromosome 8. délétion du chromosome 8 [MeSH Concept] délétion du chromosome 8 [Concept NCIt] délétion du chromosome 8 [MeSH Concept Supplémentaire] Alignements automatiques supervisés en NTBT. Cependant, tous les nouveau-nés affectés n'ont pas ce cri inhabituel. We remove all identifying information when posting a question to protect your privacy. Deletion 8p; Monosomy 8p; 8p deletion; 8p monosomy; Partial monosomy 8p, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Unique – Rare Chromosome Disorder Support Group, Project 8p, a rare chromosome 8p disorder. 1996 ; 88 (6) : 1930-1935. Chromosome 8 abnormalities represent an important hotspot in MM as well. In one t(2;5)(p23;q35) is found and is associated with an additional 1p32 deletion and in another two copies of add(2)(p23). 'Gene'. These resources provide more information about this condition or associated symptoms. Cancer research, 59(22), 5662-5665. Related terms: Fragile X Syndrome; FMR1 1. (Source: Chromosome 8p Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.). Affected neonates are hypotonic and have low birth weight, A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. La duplication inversée avec une délétion 8p, connue sous le nom inv dup del 8p, est une situation génétique rare dans laquelle il y a une copie supplémentaire d'une partie du matériel génétique qui compose les 46 chromosomes du corps humain et une copie … We report on a 5-month-old boy with a de novo interstitial deletion of the proximal short arm of chromosome 8 (p21p11.2). The prognosis of Chromosome 8 deletion may include the duration of Chromosome 8 deletion, chances of complications of Chromosome 8 deletion, probable outcomes, prospects for recovery, recovery period for Chromosome 8 deletion, survival rates, death rates, and other outcome possibilities in the overall prognosis of Chromosome 8 deletion. The presentation of symptoms may occur at birth, Worldwide, individuals of all racial and ethnic groups may be affected, A positive family history may be an important risk factor, since Chromosome 8p Deletion Syndrome can be inherited, Currently, no other risk factors have been clearly identified for the syndrome, A de-novo deletion of genetic material in the short arm (p) of chromosome 8, which is the most common reason for the disorder, Rarely, inheritance of the condition from a parent, Chromosomal analysis of cells from the developing fetus, Physical abnormalities that can cause difficulties in day-to-day living, Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy, If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child, Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders, Regular medical screening at periodic intervals with tests and physical examinations are recommended, The prognosis of Chromosome 8p Deletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any, Individuals with mild conditions have better prognosis than those with severe symptoms and complications, Typically, the prognosis may be assessed on a case-by-case basis. National Institutes of Health Create Alert. Four previous case reports with similar deletions (p11.1p21) … Devriendt, K., Matthijs, G., Van Dael, R., Gewillig, M., Eyskens, B., Hjalgrim, H., ... & Fryns, J. P. (1999). Chromosome 8, Partial Deletion of Short Arm; Chromosome 8, Partial Monosomy 8p; Chromosome 8, 8p Duplication or Dup(8p) Syndrome, Partial; Distal 8p Monosomy; Partial 8p Monosomy; Terminal 8p- Syndrome (8p21 to 8p23-pter), Included; Trisomy 8p; Mosaicism 8p; On the entire chromosome 8 (including the short arm 8p and the long arm 8q), these are some known disorders/syndromes: … 16p11.2 Deletion Syndrome . Deletion of the short arm of chromosome 4 (4p) results in variable intellectual disability; individuals with larger deletions are usually more severely affected. Ein normaler Mensch hat in den meisten seiner Zellen zwei weitgehend identische Kopien dieses Chromosoms. However, not all affected neonates have this unusual cry. Chromosome 6p Deletion Syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6 The severity of the condition and the signs and symptoms depend on the size and location of the deletion … Developmental medicine and child neurology, 43(12), 843-846. de Vries, B., Lees, M., Knight, S. J., Regan, R., Corney, D., Flint, J., ... & Winter, R. M. (2001). schéma) Comme dans les deux tiers des cas, le syndrome 18q de Maëlyne est dû à une simple délétion terminale apparaissant de novo. He’s the light of our lives (as most children are to their parents–but we like to think he’s got an unusual glow about him)! The in-depth resources contain medical and scientific language that may be hard to understand. Related topics. The size of the deletion and where it begins vary among affected individuals. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). The code Q93.59 is valid during the fiscal year 2021 from October 01, 2020 through September 30, 2021 for the submission of HIPAA-covered transactions. It is important to note that having a risk factor does not mean that one will get the condition. Researched pathways related to Chromosome 8 Deletion include Interphase, Metaphase, Pathogenesis, Cell … Deletion of 8p: a report of a child with normal intelligence. (8) The deletion is from chromosome 8 (p23.1) The chromosome has one breakpoint in band p23.1, and material from this position to the end of the chromosome is missing dn The deletion occurred de novo (or as a ‘new event’). Please remove adblock to help us create the best medical content found on the Internet. A rearrangement of chromosome 8 causes recombinant 8 syndrome, a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. Y chromosome microdeletions are identified in 3–13% of infertile men. A chromosome deletion is a form of chromosome mutation. Qin, L. X., Tang, Z. Y., Sham, J. S., Ma, Z. C., Ye, S. L., Zhou, X. D., ... & Guan, X. Y. Partial chromosome Y deletion. Distal 8p deletion (8)(p23. Associated symptoms and findings may vary greatly in range and severity, from case to case, depending on the size and breakpoints of the deletion. Chromosome 8 deletion. About half of the deletions of 18p involve the entire arm. Site gratuit de codes CIM-10 et CCAM, compatible AMELI, dédié au PMSI. Hutchinson, R., Wilson, M., & Voullaire, L. (1992). Chromosome mutations can actually be detected by looking at the DNA through a microscope. Aide au Codage pour Q998 Autres anomalies précisées des chromosomes - CCAM et CIM10 en Français. Contact a GARD Information Specialist. Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases. It is always important to discuss the effect of risk factors with your healthcare provider. La taille des délétions varie (d'une paire de bases à toute une région chromosomique) et les délétions peuvent survenir n'importe où sur le chromosome1. The study of Chromosome 8 Deletion has been mentioned in research publications which can be found using our bioinformatics tool below. Do you know of an organization? As soon as you meet him, it’s pretty easy to see he What are the other Names for this Condition? Do you have updated information on this disease? Known as: Deletions of chromosome 8, Loss of Chromosome 8, del(8) A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8. The signs and symptoms of recombinant 8 … Les personnes qui ont une cassure dans cette région perdent une zone communément appelée « région critique » en 9p22-3 et ils sont dits porteurs d’un 9p- ou syndrome d'Alfi. Auf dem Chromosom 8 … American Journal of Medical Genetics Part A, 75(5), 534-536. Indeed, MYC oncogene maps to chromosome 8p24. Deletion of a telomeric region on chromosome 8 correlates with higher productivity and stability of CHO cell lines Biotechnol Bioeng . The following DoveMed website link is a useful resource for additional information: http://www.dovemed.com/diseases-conditions/rare-disorders/, Genetic and Rare Diseases (GARD) Information CenterPO Box 8126 Gaithersburg, MD 20898-8126Toll-Free: (888) 205-2311TTY: (888) 205-3223International Telephone Access Number: (301) 251-4925Fax: (301) 251-4911Website: http://rarediseases.info.nih.gov, Chromosome Disorder Outreach (CDO)PO Box 724, Boca Raton FL 33429-0724Phone: (561) 395-4252 (Family Helpline)Email: info@chromodisorder.orgWebsite: http://www.chromodisorder.org, Unique – Rare Chromosome Disorder Support Group G1, The Stables, Station Road WestSurrey, RH8 9EE, United KingdomPhone: +44 (0)1883 723356E-mail: info@rarechromo.orgWebsite: http://www.rarechromo.org, https://rarediseases.info.nih.gov/diseases/3768/chromosome-8p-deletion (Accessed on 02/03/2018). Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t (8; 20)(p23; p13). Human chromosome 4. This medical information about signs and symptoms for Chromosome 8 deletion has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 8 deletion signs or Chromosome 8 deletion symptoms. Further investigation by array‐based comparative genomic hybridization (array‐CGH) delineated an 8 Mb interstitial deletion on the short arm of chromosome 8. Chromosome 7p22 deletion and associated symptoms directly caused by the loss of gene ACTB.. 7p22 deletion – a deletion within the short arm of chromosome 7 – causes a number of symptoms, including developmental delay, intellectual disability, internal organ malformations (primarily within the heart and kidneys), and facial abnormalities. Epub 2010 May 12 doi: 10.1038/ejhg.2010.66. In all three cases the 1p32 deletion is accompanied with structural anomalies of chromosome 8, two of them with i(8)(q10). A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. Les petit… Do you know of a review article? Adverts are the main source of Revenue for DoveMed. You can help advance Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant Single Gene Disorders associated with learning disability and developmental delay, among other symptoms. It is a congenital condition in which some of the parts of chromosome 6 deleted during the process of cell division.” With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, because a part of the sequence of the chromosome is missing. Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8. other cancers In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. The signs and symptoms of Chromosome 8p Deletion Syndrome may vary among affected individuals in type and severity, and include: Chromosome 8p Deletion Syndrome is diagnosed on the basis of the following information: Many clinical conditions may have similar signs and symptoms. Valid for Submission. Inclusion on this list is not an endorsement by GARD. You may want to review these resources with a medical professional. Monosomy 8p may also be characterized by delay… Yu S, Fiedler S, Stegner A, Graf WD Eur J Hum Genet 2010 Oct;18(10):1114-20. We want to hear from you. Chromosome 8p Deletion Syndrome is a chromosome abnormality that affects many different parts of the body. Just by his smile, everybody knows our beautiful two year old son Aaron, or as we call him, our Ace. He manifested bilateral cleft lip and palate, and apparent hypogonadism. Have a question? “An 8-year-old girl is the first unique case of chromosome 6p deletion. COVID-19 & Seltene Krankheiten Hier finden Sie Expertenempfehlungen und Dienstleistungen, einschließlich der von den Europäischen Referenznetzwerken bereitgestellten, zu COVID-19 und seltenen Krankheiten in verschiedenen Sprachen. This rearrangement results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. 1q21.1 deletion syndrome is a rare aberration of chromosome 1. 1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.   Deletion of the end of the short arm of chromosome 5 (5p minus, usually paternal) is characterized by a high-pitched, mewing cry, closely resembling the cry of a kitten, which is typically heard in the immediate neonatal period, lasts several weeks, and then disappears. Le Beau MM, Espinosa R 3rd, Davis EM, Eisenbart JD, Larson RA, Green ED: Blood. However, not all affected neonates have this unusual cry. Each segment included about 150 genes. The region, 11p14.1, is on the short arm of the chromosome and includes six genes. Prenatal diagnosis, 19(9), 863-867. This chromosome, known as Rec (8), is derived from recombination of a parental pericentric inversion of chromosome 8, known as inv (8). Affected red cells are also ankyrin-deficient. La seconde étape dans l’identification des gènes de ces syndromes de microdélétions est de comparer les tailles des délétions de différents patients avec le même syndrome pour établir la plus petite région commune de délétion (shortest region of deletion overlap : SRDO). Unfortunatly, those with that abnormality are more likely to transform to AML. How can we make GARD better? symptômes et les résultats associés peuvent varier considérablement dans la gamme et la gravité du cas. Visit the group’s website or contact them to learn about the services they offer. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. However, distribution of these deletions is unequal. Related topics 7 relations. Deletion 8p syndrome. We want to hear from you. Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease. Caractéristiques du chromosome 8. chromosome 8 have been reported in at least 1,300 patients. Cependant, les caractéristiques communes comprennent un retard de croissance;retard mental; malformations du crâne et de la … Chromosome 8p Deletion Syndrome is a chromosome abnormality that affects many different parts of the body. Chromosome mutations are due to changes in the structure of a chromosome, as opposed to gene mutations, which are changes within the chemical makeup of a chromosome. rare disease research! Chromosome 9p Région critique Le chromosome 9 peut se casser presque n'importe où sur le bras court (p), mais dans beaucoup de cas c’est dans la région appelée 9p22. Site gratuit de codes CIM-10 et CCAM, compatible AMELI, dédié au PMSI. La délétion (symbole: Δ) est une mutation génétique caractérisée par la perte de matériel génétique sur un chromosome. Le chromosome 8, Monosomie 8p est une anomalie chromosomique rare caractérisée par la suppression (monosomie) d'une partie du huitième chromosome. Manifestations also may include epilepsy, a broad or beaked nose, midline scalp defects, ptosis and colobomas , cleft palate , delayed bone development, and, in boys, hypospadias and cryptorchidism . Das Chromosom 8 enthält zwischen 4,5 und 5 % der gesamten DNA einer menschlichen Zelle. He manifested bilateral cleft lip and palate, and apparent hypogonadism. Type: Evidence Summaries . x Orphanet: Partial chromosome Y deletion. La délétion de la partie terminale du bras court d'un chromosome 5 (5p moins, généralement paternel) induit un syndrome caractérisé par un cri aigu, miaulant, rappelant le cri d'un chaton, apparaissant très tôt chez le nouveau-né et persistant pendant plusieurs semaines avant de disparaître. http://rarediseases.org/rare-diseases/chromosome-8-monosomy-8p/#causes. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. In addition, other cases have been described in which affected individuals have normal intelligence. Bhatia, S. N., Suri, V., Bundy, A., & Krauss, C. M. (1999). The association of chromosome 8p deletion and tumor metastasis in human hepatocellular carcinoma. American Journal of Medical Genetics Part A, 99(4), 314-319. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. Research of Chromosome 8 Deletion has been linked to Cytogenetic Abnormality, Neoplasms, Malignant Neoplasms, Leukemia, Langer-giedion Syndrome. Chromosome 8 Deletion: Disease Bioinformatics Research of Chromosome 8 Deletion has been linked to Cytogenetic Abnormality, Neoplasms, Malignant Neoplasms, Leukemia, Langer-giedion Syndrome. As noted above, associated features may be extremely variable. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The list of treatments mentioned in various sources for Chromosome 8 deletion includes the following list.