Questions sent to GARD may be posted here if the information could be helpful to others. NIH Rare Diseases: 52 Chromosome 5p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 5 . Special services are beneficial and include special education, social, and/or vocational services. Duplication of chromosome is another type of chromosomal rearrangement. Reverse tandem duplication. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external), There is limited information on how chromosome abnormalities like duplication 5p15.2pter impact growth and development. More than 40 cases have been described since the original description by Lejeune in 1964. Phone: 254-724-3704 The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Hyodceles (swelling of the scrotum) and hernias have been reported. The HPO Unique – Rare Chromosome Disorder Support Group. J. Med. A case report and review. In the case of 5p duplication, where most of the material is derived from the short arm, the ring will include a very small area on the long arm that is near the centromere that does not contain genes with known clinical consequence. If any other chromosome is involved with chromosome 5 in an unbalanced translocation, the individual will have extra and missing material. At birth the soft parts of the skull where the bones of the skull come together (fontanels) may be enlarged. Loscalzo ML, et al., A patient with an interstitial duplication of chromosome 5p11p13.3 further confirming a critical region for 5p duplication syndrome. 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. Offspring produced from a parent with a balanced translocation may be balanced and thus have no phenotypic features since there is no duplication or be unbalanced. The molecule is called IGA (immunoglobulin A) and although it is produced in normal amounts, the amount secreted is decreased. MS-1-043 National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 • (203)744-0100. “Complete 5p” trisomy: 1 case and 19 translocation carriers in 6 generations. If more of the long arm of chromosome 5 is involved, the individual will have a phenotype that is slightly different and will varied from the commonly observed phenotype of individuals with duplication of 5p material alone. Symptoms of Chromosome 5 duplication (q11-q22) (Dup (5)(q11-q22)) Some of the symptoms of Chromosome 5 duplication (q11-q22) incude: Psychomotor retardation; Musculoskeletal abnormalities; Facial … Infants with the disorder may have a normal birth weight or intrauterine growth retardation (IUGR). New York, NY: Oxford University Press; 2001. Chromosome 8 spans more than 146 million DNA building blocks (base pairs) and represents between 4.5 and 5 percent of the total DNA in cells. www.centerwatch.com For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/ Contact for additional information about chromosome 5, trisomy 5p: Sheila Dobin, PhD Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. It is generally difficult to say what the future will hold for affected individuals, because even when the chromosome abnormalities are similar the health problems can vary widely. Prenatal diagnosis of trisomy 5p: a case report. NORD is very grateful to Sheila Dobin, PhD, Section Chief, Cytogenetics, PhD Medical Geneticist, Medical Genetics, Baylor Scott & White Health-Scott and White Medical Center-Temple, Texas A&M University Health Science Center. In the parent, if all of the material is present, it is balanced and thus is usually harmless to the carrier. Duplication (5p13 leads to pter): prenatal diagnosis and review of the literature. Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Antonenko V.G, et al. Inclusion on this list is not an endorsement by GARD. Sizonenko, Loredana D’Amato, et al., Supernumerary marker chromosome 5: Confirmation of a critical region and resultant phenotype. Prenatal In some cases, a diagnosis of a chromosomal abnormality may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). Trisomy 5q is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5, hence why it is also known as chromosome 5q duplication. Am J Med Genet. Nuchal translucency and CVS require early knowledge of a pregnancy. The size of the inversion and its location often will determine the risk for unbalanced offspring. PhD Medical Geneticist/Clinical Cytogeneticist The clinical and cytogenetic data obtained from six patients … 1997;68:476-480. A chorionic villus sampling (CVS) may be performed earlier in pregnancy (11-12 weeks gestation). 1977;14:271-274. Duplication 5p; Trisomy 5p; 5p duplication; Duplication 5p; Trisomy 5p; 5p duplication; 5p trisomy; Partial trisomy 5p, 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, Human Phenotype Ontology Based upon the data for critical area, the gene NIPBL has been reported as possibly being the candidate gene for the syndrome. These are often ring chromosome caused by two breaks in the chromosome. In most cases, trisomy 5p appears to be caused by spontaneous (de novo) errors very early in embryonic development. If you do not want your question posted, please let us know. Further characterization of the dup(5p13) syndrome. (HPO). Partial distal 5p trisomy resulting from paternal translocation (5;15)(p15.1;p13) in a boy with no mental retardation. This happens when homologous chromosomes paired up, genes in chromosomes broke apart, genes inserted in the wrong chromosome, or genes or set of genes are completely lost in the chromosome. Euro J Med Genet. With this knowledge, certain physical features may be suspected and monitored (e.g., congenital heart defects, seizure activity). (HPO) . Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques. Not all individuals with trisomy 5p will have all of the symptoms of the disorder. J. Med Genet. Pure partial trisomy of the short arm of chromosome 5. After enough cells have grown, the cells are collected and processed for cytogenetic or chromosomal microarray analysis. Another gene that has been reported to be a possible candidate gene for the clinical features observed is GDNF. J. Med. Most physical features are due to a duplication of the bands 5p11 to 5p13.3.[3]. Structural chromosome abnormalities occur when part of a chromosome is missing, a part of a chromosome is extra, or a part has switched places with another part. Alvarez-Coca J, et al. De novo complete trisomy 5p: clinical report and FISH studies. Sonography. Birth Defects Encyclopedia. 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. An Esp Pediatr. The following conditions are caused by changes in the structure or number of copies of chromosome 5: 2002;112:56-60. Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. Orye E, et al. During an amniocentesis at 16-18 weeks gestation, a sample of fluid that surrounds the developing fetus is removed. Identifying genes on each chromosome is an active area of genetic research. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. 2005;136A:381¬385. Trisomy 5p: a second case occurring in a previously described kindred. Duplication. Comparison of the features and the overlapping areas, allows for the definition of a critical region for various phenotypic features. Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1—-p15.3). Scott & White Medical Center-Temple If the translocation involves the short arm of chromosomes 13, 14, 15, 21 or 22, there is loss of material, but that material will not contribute to the phenotype since it does not include genetic material with unique genes. 1993;50:194-196. Infants with trisomy 5p may also have a narrow chest with a prominent or distended abdomen. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome. While the features for trisomy 5p appear consistent, the diagnosis cannot be made on clinical features alone. Amer J Med Genet.2002;111:19-26. Please note that NORD provides this information for the benefit of the rare disease community. 1994;45:305¬307. 1982;12:43-49. TEXTBOOKS Gorlin RJ, et al, eds. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: Baialardo E, et al. 1983;20:394-396. De Prater J.M, et al. Duplication disorders occur where a portion of a chromosome is duplicated. In some cases, the duplication may result from a balanced chromosomal rearrangement in one of the parents and in rare cases the translocation is a new event in the child (de-novo translocation). Some individual have problems with the urine collecting system in the kidneys (pyelectasis). Acta Paediatr Jpn. Growth delays after birth (postnatal growth retardation) are common along with abnormally diminished muscle tone (hypotonia). All 5 duplications involved the NIPBL gene, 4 of which duplicated the entire gene; 4 of the duplications included part or all of the FLJ13231 (C5ORF42) gene. Visit the group’s website or contact them to learn about the services they offer. Prenat Diagn. For the majority of the phenotypic features to be present, the duplication must include 5p10 to 5p13.1. Patients have learning, developmental and speech and language difficulties and a characteristic “cat like cry” as infants. Ears are often low-set and there may be fewer creases of the ear (simple helix) or the ear may have indented areas (crumpled helix). The individuals with only the duplication allow a better description of the symptoms (phenotype) and definition of a critical region for certain symptoms (cardiac abnormalities and seizures). We want to hear from you. There may be repetitive movements of the hands (stereotypic movements). Fax: 244-724-6803 To search for patient organizations and other pages related to this topic, use the Advanced Search function at the top right corner of the page. In fact, there has been a suggestion that some of the long arm of chromosome 5 may provide a protective effect of 5p duplication and thus these individuals have milder phenotype. 1987;32:49-56. There are also characteristic abnormalities of the hands and feet. Use the HPO ID to access more in-depth information about a symptom. We want to hear from you. Trisomy 5p: a report of 2 cases. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. In most cases, trisomy 5p appears to be caused by spontaneous (de novo) errors very early in embryonic development. Characteristic physical features of 5p duplications have been reported in individuals with complete duplications of 5p as well as those with various partial duplications. Dover, MA; Blackwell Scientific Publications, Inc.; 1990:340-341. In corn the deficiency is restricted to pollen sterility. Section Chief, Cytogenetics Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes. The decrease in the fluid is believed to be due to swallowing tube abnormalities (esophageal atresia). [2], In general, many affected infants and children with a 5p duplication have abnormalities that include low muscle tone (hypotonia); an unusually large head (macrocephaly), and additional abnormalities of the head and facial (craniofacial) area; long, slender fingers (arachnodactyly); developmental delay; and intellectual disability. The 2021 edition of ICD-10-CM Q92.5 became effective on October 1, 2020. In our patient, interstitial duplication in chromosome 5 (5q35.1) was diagnosed. Trisomy 5p due to paternal translocation (4;5)(q35;p12). 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