| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
3864729 |
A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13. Kondo I, Shin K, Honmura S, Nakajima H, Yamamura E, Satoh H, Terauchi M, Usuki Y, Takita H, Hamaguchi H. Hum Genet. 1985;71(3):263-6. |
| Epicanthus Micrognathia | ||
| ESD LCP1 RB1 | ||
| Blood Proteins Carboxylic Ester Hydrolases Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, 13-15 Eye Neoplasms Females Genetic Markers Homo sapiens Infant Microfilament Proteins Retinoblastoma | ||
| 2 (57.8%) |
22387206 |
A case of del(13)(q14.2)(q31.3) associated with hypothyroidism, hypertriglyceridemia, hypercholesterolemia and total ophthalmoplegia. Malbora B, Meral C, Malbora N, Sunnetci D, Cine N, Savli H. Gene. 2012;498(2):296-9. |
| Micrognathia | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 13 Diseases in Twins Females Homo sapiens Hypercholesterolemia Hypertriglyceridemia Hypothyroidism Infant Male Pregnancy | ||
| 3 (39.0%) |
15948192 |
Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations. Alanay Y, Aktas D, Utine E, Talim B, Onderoglu L, Caglar M, Tuncbilek E. Am J Med Genet A. 2005;136(3):265-8. |
| Dandy-Walker malformation | ||
| Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 13 Dandy-Walker Syndrome Fatal Outcome Fetal Death Fetus Homo sapiens Male Syndrome | ||
| 4 (33.7%) |
3653883 |
Familial retinoblastoma (mother and son) with 13q14 deletion. Fukushima Y, Kuroki Y, Ito T, Kondo I, Nishigaki I. Hum Genet. 1987;77(2):104-7. |
| Open mouth Long philtrum | ||
| ESD SON | ||
| Adult Carboxylic Ester Hydrolases Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 13 Eye Neoplasms Females Genes, Dominant Homo sapiens Infant Male Retinoblastoma | ||
| 4 (33.7%) |
3322010 |
Deletion (13)(q14.1q14.3) in two generations: variability of ocular manifestations and definition of the phenotype. Wilson WG, Campochiaro PA, Conway BP, Carter BT, Sudduth KW, Watson BA, Sparkes RS. Am J Med Genet. 1987;28(3):675-83. |
| Long upper lip | ||
| Adult Carboxylic Ester Hydrolases Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 13 Females Homo sapiens Infant Phenotype Retina Retinoblastoma | ||
| 6 (17.5%) |
1756473 |
Deletion of part of the long arm of chromosome 13 as the only karyotypic aberration in a follicular thyroid adenoma. Belge G, Thode B, Bullerdiek J, Bartnitzke S. Cancer Genet Cytogenet. 1991;56(2):277-80. |
| Thyroid adenoma Lipoma | ||
| Adenoma Chromosome Deletion Chromosomes, Human, Pair 13 Females Homo sapiens Lipoma Thyroid Neoplasm | ||
| 7 (4.0%) |
26586717 |
Case report: Concomitant Chronic Lymphocytic Leukaemia and Cytogenetically Normal de novo Acute Leukaemia in a Patient. Kajtar B, Rajnics P, Egyed M, Alizadeh H. Ann Clin Lab Sci. 2015;45(5):602-6. |
| Leukemia | ||
| Chromosome Deletion Chromosomes, Human, Pair 13 Chronic Lymphocytic Leukemia Cytogenetic Analysis Homo sapiens Immunoglobulin Heavy Chains Immunophenotyping Leukemia, Myelocytic, Acute Male | ||
| 7 (4.0%) |
20110188 |
Autopsy case of a patient with 13q- syndrome. Kasuda S, Morimura Y, Kudo R, Kawashima W, Tamaki S, Nakanishi M, Hatake K. Leg Med (Tokyo). 2010;12(3):144-7. |
| Psychomotor retardation | ||
| Adrenal Glands Chromosome Deletion Chromosomes, Human, Pair 13 External Ear Homo sapiens Hyperplasia Lung Male Pituitary Gland Testis Thyroid Gland | ||
| 7 (4.0%) |
17786124 |
Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review. van Bon BW, Koolen DA, Feenstra I, Neefs I, Pfundt R, Smeets DF, de Vries BB. Clin Dysmorphol. 2007;16(4):279-82. |
| Tall stature | ||
| Body Height Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 13 Face Homo sapiens Infant Male | ||
| 7 (4.0%) |
16650893 |
Chronic lymphocytic leukaemia Is terminal del(14)(q24) a new marker for prognostic stratification? La Starza R, Barba G, Matteucci C, Crescenzi B, Romoli S, Pierini V, Beacci D, Cantaffa R, Martelli MF, Mecucci C. Leuk Res. 2006;30(12):1569-72. |
| Leukemia | ||
| RB1 RP1 | ||
| Chromosome Deletion Chromosomes, Human, Pair 14 Chronic Lymphocytic Leukemia Fluorescent in Situ Hybridization Homo sapiens Male Oligonucleotide Array Sequence Analysis Sensitivity and Specificity |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000391 | Thickened helices | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0000243 | Trigonocephaly | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000612 | Iris coloboma | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0007477 | Abnormal dermatoglyphics | Frequent (79-30%) |
| HP:0009919 | Retinoblastoma | Frequent (79-30%) |
| HP:0000465 | Webbed neck | Occasional (29-5%) |
| HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (29-5%) |
| HP:0011024 | Abnormality of the gastrointestinal tract | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000854 | Thyroid adenoma | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0002155 | Hypertriglyceridemia | 1 |
| HP:0003124 | Hypercholesterolemia | 1 |
| HP:0007824 | Total ophthalmoplegia | 1 |