Tetraploidy

Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.

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Narrow down the case reports

Total: 60 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
10 (4.0%)	15717685	CD2+ tetraploid acute promyelocytic leukemia variant with double (15;17) translocations. Kaito K, Otsubo H, Dobashi N, Usui N, Kobayashi M. Int J Hematol. 2005;81(1):29-31. [ Show abstract ] [ Hide abstract ]
		Thrombocytopenia
		CD2 PML RARA

		Acute Promyelocytic Leukemia CD2 Antigens Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 17 Fatal Outcome Homo sapiens Male Middle Aged Ploidies
10 (4.0%)	12935930	Hypocellular acute promyelocytic leukemia with a tetraploid clone characterized by two t(15;17). Kojima K, Imaoka M, Noguchi T, Narumi H, Uchida N, Sakai I, Yasukawa M, Fujita S. Cancer Genet Cytogenet. 2003;145(2):169-71. [ Show abstract ] [ Hide abstract ]
		Leukemia


		Acute Promyelocytic Leukemia Bone Marrow Cells Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 17 Fluorescent in Situ Hybridization Homo sapiens Male Middle Aged Polyploidy Sequence Deletion
10 (4.0%)	12885462	Tetraploid acute promyelocytic leukemia with double t(15;17) and PML/RARA rearrangements detected by fluorescence in situ hybridization analysis. Oh SH, Park TS, Kim HH, Chang CL, Lee EY, Son HC, Chung JS, Cho GJ. Cancer Genet Cytogenet. 2003;145(1):49-53. [ Show abstract ] [ Hide abstract ]
		Leukemia
		PML

		Acute Promyelocytic Leukemia Aneuploidy Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 17 Females Fluorescent in Situ Hybridization Homo sapiens Middle Aged Neoplasm Proteins Nuclear Proteins Oncogene Proteins, Fusion Retinoic Acid Receptor Tumor Suppressor Proteins
10 (4.0%)	12796605	Translocation (11;15;19): a highly specific chromosome rearrangement associated with poorly differentiated thymic carcinoma in young patients. Toretsky JA, Jenson J, Sun CC, Eskenazi AE, Campbell A, Hunger SP, Caires A, Frantz C, Hill JL, Stamberg J. Am J Clin Oncol. 2003;26(3):300-6. [ Show abstract ] [ Hide abstract ]
		Pleural effusion


		Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 19 Cytogenetic Analysis Fatal Outcome Homo sapiens Immunohistochemistry Male Thymus Neoplasms
10 (4.0%)	12717255	Biliary adenofibroma: a rare neoplasm of bile duct origin with an indolent behavior. Varnholt H, Vauthey JN, Dal Cin P, Marsh Rde W, Bhathal PS, Hughes NR, Lauwers GY. Am J Surg Pathol. 2003;27(5):693-8. [ Show abstract ] [ Hide abstract ]
		Hamartoma
		KRT19 KRT7 TP53

		Adenofibroma Bile Duct Neoplasms Biomarkers, Tumor DNA, Neoplasm Females Flow Cytometry Fluorescent in Situ Hybridization Homo sapiens Immunohistochemistry Liver Magnetic Resonance Imaging Middle Aged Polyploidy
10 (4.0%)	12153169	Bcl-3/IgH translocation (14;19)(q32;q13) in non-Hodgkin's lymphomas. Au WY, Horsman DE, Ohno H, Klasa RJ, Gascoyne RD. Leuk Lymphoma. 2002;43(4):813-6. [ Show abstract ] [ Hide abstract ]
		Leukemia


		Aged, 80 and over Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 19 Females Homo sapiens Immunoglobulin Heavy Chains Lymphoma, Non-Hodgkin Proto-Oncogene Proteins
10 (4.0%)	11980754	Polyploidy in large-headed sperm: FISH study of three cases. Devillard F, Metzler-Guillemain C, Pelletier R, DeRobertis C, Bergues U, Hennebicq S, Guichaoua M, Sele B, Rousseaux S. Hum Reprod. 2002;17(5):1292-8. [ Show abstract ] [ Hide abstract ]
		Infertility


		Adult Cell Nucleus Chromosome Aberrations Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 18 Congenital Abnormality Cytogenetic Analysis Fluorescent in Situ Hybridization Gene Dosage Homo sapiens Male Middle Aged Ploidies Sex Chromosomes Sperm Head
10 (4.0%)	11843293	Philadelphia chromosome-positive acute myeloid leukemia with tetraploidy. Yamaguchi H, Inokuchi K, Yokomizo E, Miyata J, Watanabe A, Inami M, Tajika K, Dan K. Int J Hematol. 2002;75(1):63-6. [ Show abstract ] [ Hide abstract ]
		Fever
		ABL1 ANPEP BCR CD14 CD33 CD34

		Acute Disease Antineoplastic Combined Chemotherapy Protocols Biomarkers, Tumor Fusion Proteins, bcr-abl Homo sapiens Male Middle Aged Polyploidy RNA, Messenger RNA, Neoplasm Remission Induction
10 (4.0%)	11721969	CD7+ near-tetraploid acute myeloblastic leukemia M2 with double t(8;21)(q22;q22) translocations and Aml1/ETO rearrangements detected by fluorescence in situ hybridization analysis. Yamamoto K, Nagata K, Kida A, Tsurukubo Y, Hamaguchi H. Int J Hematol. 2001;74(3):316-21. [ Show abstract ] [ Hide abstract ]
		Pancytopenia
		ANPEP CD19 CD2 CD33 CD34 CD7 NCAM1 RUNX1 RUNX1T1

		CD7 Antigens Chromosomes, Human, Pair 21 Chromosomes, Human, Pair 8 Clone Cells Females Fluorescent in Situ Hybridization Gene Rearrangement Homo sapiens Immunophenotyping Leukemia, Myelocytic, Acute Oncogene Proteins, Fusion Polyploidy RNA, Messenger RUNX1 Translocation Partner 1 Protein
10 (4.0%)	10584698	Clear cell sarcoma of kidney in an adolescent and in young adults: a report of four cases with ultrastructural, immunohistochemical, and DNA flow cytometric analysis. Amin MB, de Peralta-Venturina MN, Ro JY, El-Naggar A, Mackay B, Ordonez N, Mani A, Ayala A. Am J Surg Pathol. 1999;23(12):1455-63. [ Show abstract ] [ Hide abstract ]
		Hematuria
		VIM

		Adult Biomarkers, Tumor Cell Nucleus Clear Cell Sarcoma of Soft Tissue Cytokeratin DNA, Neoplasm Desmin Females Flow Cytometry Homo sapiens Immunoenzyme Techniques Kidney Neoplasm Male S100 Proteins Vimentin

Phenotype(s) retrieved from Orphanet

Total: 17

HPO ID	Term	Frequency
HP:0000252	Microcephaly	Very frequent (99-80%)
HP:0000444	Convex nasal ridge	Very frequent (99-80%)
HP:0001511	Intrauterine growth retardation	Very frequent (99-80%)
HP:0002916	Abnormality of chromosome segregation	Very frequent (99-80%)
HP:0004422	Biparietal narrowing	Very frequent (99-80%)
HP:0000322	Short philtrum	Frequent (79-30%)
HP:0000347	Micrognathia	Frequent (79-30%)
HP:0004059	Radial club hand	Frequent (79-30%)
HP:0100720	Hypoplasia of the ear cartilage	Frequent (79-30%)
HP:0000126	Hydronephrosis	Occasional (29-5%)
HP:0000175	Cleft palate	Occasional (29-5%)
HP:0000384	Preauricular skin tag	Occasional (29-5%)
HP:0002308	Arnold-Chiari malformation	Occasional (29-5%)
HP:0006703	Aplasia/Hypoplasia of the lungs	Occasional (29-5%)
HP:0008056	Aplasia/Hypoplasia affecting the eye	Occasional (29-5%)
HP:0008678	Renal hypoplasia/aplasia	Occasional (29-5%)
HP:0010515	Aplasia/Hypoplasia of the thymus	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 17

HPO ID	Term	# of case reports
HP:0001909	Leukemia	6
HP:0002488	Acute leukemia	3
HP:0005268	Spontaneous abortion	2
HP:0000141	Amenorrhea	1
HP:0000147	Polycystic ovaries	1
HP:0000568	Microphthalmia	1
HP:0001875	Neutropenia	1
HP:0002414	Spina bifida	1
HP:0002664	Neoplasm	1
HP:0002901	Hypocalcemia	1
HP:0003003	Colon cancer	1
HP:0007902	Vitreous hemorrhage	1
HP:0010878	Fetal cystic hygroma	1
HP:0100242	Sarcoma	1
HP:0100806	Sepsis	1
HP:0410030	Cleft lip	1
HP:0410252	Chronic neutropenia	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID