| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 19 (26.3%) |
11754067 |
Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome. Emberger W, Petek E, Kroisel PM, Zierler H, Wagner K. Am J Med Genet. 2001;104(4):312-8. |
| Triangular face | ||
| Child Child, Preschool Chromosome Banding Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 8 Cytogenetic Analysis Fatal Outcome Females Fluorescent in Situ Hybridization Homo sapiens Infant Phenotype Syndrome Trisomy | ||
| 22 (24.9%) |
17661383 |
Prenatal sonographic features of trisomy 1q. Wax JR, Carpenter M, Chard R, Cartin A, Pinette MG, Blackstone J. J Clin Ultrasound. 2008;36(4):231-6. |
| Cystic hygroma | ||
| Abortion, Eugenic Adult Chromosomes, Human, Pair 1 Females Homo sapiens Pregnancy Pregnancy Trimester, Second Trisomy Ultrasonography, Prenatal | ||
| 23 (23.3%) |
3783626 |
Three children with partial trisomy 1q and partial monosomy 3p. McCarthy GT, Fear CN, Berry AC. J Med Genet. 1986;23(5):466-7. |
| Scoliosis | ||
| Child Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 3 Females Homo sapiens Male Trisomy | ||
| 24 (21.2%) |
12784294 |
Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p. James PA, Aftimos S, Oei P. Am J Med Genet A. 2003;119A(3):288-92. |
| Large joint dislocations | ||
| F13A1 | ||
| Adult Child Child, Preschool Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 6 Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Musculoskeletal Diseases Phenotype Trisomy | ||
| 25 (4.0%) |
28422838 (5406054) |
Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report. Aleksiunien B, Matuleviiut R, Matuleviien A, Burnyt B, Krasovskaja N, Ambrozaityt L, Miktien V, Dirs V, Utkus A, Kuinskas V. Medicine (Baltimore). 2017;96(16):e6521. |
| Hearing impairment | ||
| AKT3 CEP170 DSCAM TMPRSS3 ZBTB18 | ||
| Child Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 21 Family Females Homo sapiens Infant Intellectual Disability Male Phenotype | ||
| 25 (4.0%) |
27607436 |
Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. Yamamoto K, Kawamoto S, Mizutani Y, Yakushijin K, Yamashita T, Nakamachi Y, Kawano S, Hayashi Y, Matsuoka H, Minami H. Cytogenet Genome Res. 2016;149(3):165-170. |
| Leukemia | ||
| CD19 CD22 CD33 MME MPO TAF15 ZNF384 | ||
| Adult Base Sequence Child Child, Preschool Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 17 Exons Females Homo sapiens Male Oncogene Proteins, Fusion Phenotype Precursor B-Cell Lymphoblastic Leukemia-Lymphoma Reverse Transcriptase Polymerase Chain Reaction TATA-Binding Protein Associated Factors Trans-Activators Trisomy Young Adult | ||
| 25 (4.0%) |
25184002 (4151026) |
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up. Meloni VA, Takeno SS, Pilla AL, de Mello CB, Melaragno MI, Kulikowski LD. Mol Cytogenet. 2014;7:57. |
| Intellectual disability | ||
| 25 (4.0%) |
24987354 (4067722) |
Extended Antitumor Response of a BRAF V600E Papillary Thyroid Carcinoma to Vemurafenib. Ali SM, He J, Carson W, Stephens PJ, Fiorillo J, Lipson D, Palmer GA, Ross JS, Miller VA, Sharman J. Case Rep Oncol. 2014;7(2):343-8. |
| Diarrhea | ||
| BRAF | ||
| p|SUB|V|600|E;RS#:113488022 | ||
| 25 (4.0%) |
24677675 |
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature. Sifakis S, Eleftheriades M, Kappou D, Murru R, Konstantinidou A, Orru S, Ziegler M, Liehr T, Manolakos E, Papoulidis I. Birth Defects Res A Clin Mol Teratol. 2014;100(4):284-93. |
| Ventriculomegaly | ||
| Adult Chromosomes, Human, Pair 1 Females Fetus Homo sapiens Pregnancy Trisomy Ultrasonography | ||
| 25 (4.0%) |
24217199 |
Supernumerary isochromosome 1, idic(1)(p12), leading to tetrasomy 1q in Burkitt lymphoma. Roug AS, Wendtland P, Bendix K, Kjeldsen E. Cytogenet Genome Res. 2014;142(1):7-13. |
| Neoplasm | ||
| POLE4 | ||
| Antineoplastic Combined Chemotherapy Protocols B-Lymphocytes Bone Marrow Burkitt Lymphoma Child Chromosome Banding Chromosomes, Human, Pair 1 Combined Modality Therapy Diagnostic Errors Fluorescent in Situ Hybridization Homo sapiens Immunophenotyping Isochromosomes Male Precursor B-Cell Lymphoblastic Leukemia-Lymphoma Sequence Deletion Tetrasomy |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000445 | Wide nose | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0000003 | Multicystic kidney dysplasia | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000308 | Microretrognathia | Frequent (79-30%) |
| HP:0000476 | Cystic hygroma | Frequent (79-30%) |
| HP:0000528 | Anophthalmia | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001833 | Long foot | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0010880 | Increased nuchal translucency | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000046 | Scrotal hypoplasia | Occasional (29-5%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000356 | Abnormality of the outer ear | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000601 | Hypotelorism | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0001800 | Hypoplastic toenails | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
| HP:0008386 | Aplasia/Hypoplasia of the nails | Occasional (29-5%) |
| HP:0008676 | Congenital megaureter | Occasional (29-5%) |
| HP:0010306 | Short thorax | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001909 | Leukemia | 4 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000879 | Short sternum | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0010557 | Overlapping fingers | 1 |
| HP:0011974 | Myelofibrosis | 1 |
| HP:0025318 | Ovarian carcinoma | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|