| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (69.4%) |
19650409 |
A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24). Balci S, Aypar E, Beksac MS, Bartsch O. Genet Couns. 2009;20(2):125-32. |
| Long philtrum Micrognathia Synophrys | ||
| TPPP | ||
| Amniocentesis Child Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 8 DNA-Binding Proteins Females Fluorescent in Situ Hybridization Genetic Carrier Screening Genetic Counseling Genotype Homo sapiens Infant Infant, Newborn Intellectual Disability Male Monosomy Pregnancy Psychomotor Disorders Repressor Proteins Trisomy Von Hippel-Lindau Tumor Suppressor Protein | ||
| 1 (69.4%) |
2178418 |
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y, Kimoto H. Am J Med Genet. 1990;35(2):269-73. |
| Long philtrum Micrognathia Synophrys | ||
| Chromosome Deletion Chromosomes, Human, Pair 3 Face Failure to Thrive Females Growth Disorders Homo sapiens Infant Intellectual Disability Male Microcephaly Monosomy Phenotype Ring Chromosomes | ||
| 3 (66.3%) |
24979567 |
Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome. Omrani MD, Saleh Gargari S, Azizi F, Safavi Naini N, Omrani S. Arch Iran Med. 2014;17(7):521-2. |
| Long philtrum Micrognathia | ||
| Chromosome Deletion Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 9 Females Homo sapiens Infant | ||
| 3 (66.3%) |
17696125 |
Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. Malmgren H, Sahlen S, Wide K, Lundvall M, Blennow E. Am J Med Genet A. 2007;143A(18):2143-9. |
| Long philtrum Micrognathia | ||
| ATP2B2 VHL | ||
| Bacterial Artificial Chromosomes Chromosome Deletion Chromosomes, Human, Pair 3 Females Fluorescent in Situ Hybridization Homo sapiens Phenotype Syndrome | ||
| 5 (58.9%) |
16700052 |
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Am J Med Genet A. 2006;140(12):1285-96. |
| Microcephaly Triangular face Blepharophimosis Adducted thumb | ||
| rs1292888378 rs1369442321 rs1556334519 rs1556334793 rs1556336534 rs1556337063 rs1556338747 rs1556340124 rs387907360 rs748064846 rs769232520 rs863223696 | ||
| Blepharophimosis Child Child, Preschool Chromosomes, Human, X Fatal Outcome Females Follow-Up Studies Genes, Recessive Genetic Diseases, X-Linked Homo sapiens Hypothyroidism Infant Intellectual Disability Male Syndrome Time Factors | ||
| 6 (57.8%) |
7951234 |
Molecular genetic analysis of the 3p- syndrome. Phipps ME, Latif F, Prowse A, Payne SJ, Dietz-Band J, Leversha M, Affara NA, Moore AT, Tolmie J, Schinzel A, et al.. Hum Mol Genet. 1994;3(6):903-8. |
| Microcephaly Micrognathia | ||
| ATP2B2 RAF1 VHL | ||
| Adult Child Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 3 Females Fluorescent in Situ Hybridization Follow-Up Studies Genetic Markers Genetic Polymorphism Homo sapiens Infant Lymphocyte Male Phenotype Syndrome | ||
| 7 (54.5%) |
3443553 |
Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome. Schwyzer U, Binkert F, Caflisch U, Baumgartner B, Schinzel A. Helv Paediatr Acta. 1987;42(4):309-15. |
| Trigonocephaly Narrow forehead Upslanted palpebral fissure Postaxial polydactyly | ||
| TPPP | ||
| Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 3 Females Homo sapiens Infant Syndrome | ||
| 8 (44.7%) |
7246613 |
Duplication 3p syndrome: report of a new case and review of the literature. Charrow J, Cohen MM, Meeker D. Am J Med Genet. 1981;8(4):431-6. |
| Microcephaly Epicanthus | ||
| H3F3AP6 | ||
| Chromosomes, Human, 1-3 Dermatoglyphics Females Follow-Up Studies Homo sapiens Infant, Newborn Intellectual Disability Trisomy | ||
| 8 (44.7%) |
7094943 |
Clinical and cytogenetic spectrum of duplication 3p. Braga S, Schmidt A. Eur J Pediatr. 1982;138(2):195-7. |
| Brachycephaly Epicanthus | ||
| H3F3AP6 | ||
| Chromosome Aberrations Chromosomes, Human, 1-3 Congenital Heart Defects Females Homo sapiens Infant, Newborn | ||
| 10 (43.1%) |
7586645 |
Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature. Conte RA, Pitter JH, Verma RS. Clin Genet. 1995;48(1):49-53. |
| Short neck Telecanthus | ||
| Chromosomes, Human, Pair 3 Females Homo sapiens Infant Male Trisomy |
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0006695 | Atrioventricular canal defect | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000325 | Triangular face | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000581 | Blepharophimosis | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0004467 | Preauricular pit | Occasional (29-5%) |
| HP:0007670 | Abnormal vestibulo-ocular reflex | Occasional (29-5%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 4 |
| HP:0000508 | Ptosis | 4 |
| HP:0000347 | Micrognathia | 3 |
| HP:0000316 | Hypertelorism | 2 |
| HP:0000343 | Long philtrum | 2 |
| HP:0000243 | Trigonocephaly | 1 |
| HP:0000248 | Brachycephaly | 1 |
| HP:0000325 | Triangular face | 1 |
| HP:0000341 | Narrow forehead | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000463 | Anteverted nares | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000506 | Telecanthus | 1 |
| HP:0000582 | Upslanted palpebral fissure | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000664 | Synophrys | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001945 | Fever | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0005469 | Flat occiput | 1 |
| HP:0010442 | Polydactyly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|