| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (75.3%) |
1887850 |
Penta X syndrome: a case report with review of the literature. Kassai R, Hamada I, Furuta H, Cho K, Abe K, Deng HX, Niikawa N. Am J Med Genet. 1991;40(1):51-6. |
| Epicanthus Long philtrum Small hand | ||
| TPPP3 | ||
| Adult Chromosome Banding Females Homo sapiens Infant Male Maternal Age Paternal Age Sex Chromosome Aberrations Syndrome X Chromosome | ||
| 2 (65.5%) |
6773908 |
[A new case of pentasomy X]. Schroeter C, Jahrig K, Weinke I. Helv Paediatr Acta. 1980;35(3):233-41. |
| Epicanthus Hemiatrophy | ||
| Chromosome Aberrations Eye Abnormalities Facial Hemiatrophy Females Homo sapiens Infant Intellectual Disability Psychomotor Disorders Sex Chromosomes X Chromosome | ||
| 3 (58.6%) |
21654007 |
Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure. Wood A, Kleis L, Toriello H, Cemeroglu AP. Indian Pediatr. 2011;48(5):402-4. |
| Facial asymmetry Long philtrum Scoliosis Cubitus valgus | ||
| Aneuploidy Chromosomes, Human, X Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Ovarian Failure, Premature Phenotype Sex Chromosome Aberrations Sex Chromosome Disorders Syndrome | ||
| 4 (57.8%) |
26929910 (4768830) |
Report of a new case with pentasomy X and novel clinical findings. Demirhan O, Tanriverdi N, Yilmaz MB, Kocaturk-Sel S, Inandiklioglu N, Luleyap U, Akbal E, Comertpay G, Tufan T, Dur O. Balkan J Med Genet. 2015;18(1):85-92. |
| Microcephaly Micrognathia | ||
| 5 (53.2%) |
7246603 |
Pentasomy X: report of patient and studies of X-inactivation. Funderburk SJ, Valente M, Klisak I. Am J Med Genet. 1981;8(1):27-33. |
| Microcephaly Finger clinodactyly | ||
| Aneuploidy Child, Preschool Females Homo sapiens Intellectual Disability Joints Microcephaly Phenotype Sex Chromosome Aberrations Sex Chromosomes Syndrome X Chromosome | ||
| 6 (52.1%) |
525347 |
The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism. Cirillo Silengo M, Davi GF, Franceschini P. Acta Paediatr Scand. 1979;68(5):769-71. |
| Clinodactyly Slanting of the palpebral fissure | ||
| Bone Diseases, Developmental Females Growth Disorders Homo sapiens Infant Intellectual Disability Mosaicism Polyploidy Sex Chromosome Aberrations Sex Chromosomes X Chromosome | ||
| 7 (50.6%) |
15333671 |
A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. Cho YG, Kim DS, Lee HS, Cho SC, Choi SI. J Clin Pathol. 2004;57(9):1004-6. |
| Hydrocephalus Radioulnar synostosis Small hand | ||
| Chromosomes, Human, X Cytogenetics Females Genetic Markers Homo sapiens Infant Sex Chromosome Disorders Short Tandem Repeat | ||
| 8 (39.7%) |
8284294 |
On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome. Martini G, Carillo G, Catizone F, Notarangelo A, Mingarelli R, Dallapiccola B. Prenat Diagn. 1993;13(8):763-6. |
| Radioulnar synostosis | ||
| Adult Amniotic Fluid Aneuploidy Cultured Cells Females Homo sapiens Male Pregnancy Pregnancy Trimester, Second Syndrome Ultrasonography, Prenatal X Chromosome | ||
| 9 (39.0%) |
7576173 |
Dandy-Walker malformation in a fetus with pentasomy X (49,XXXXX) prenatally diagnosed by fluorescence in situ hybridization technique. Myles TD, Burd L, Font G, McCorquodale MM, McCorquodale DJ. Fetal Diagn Ther. 1995;10(5):333-36. |
| Dandy-Walker malformation | ||
| Adult Aneuploidy Dandy-Walker Syndrome Females Fluorescent in Situ Hybridization Homo sapiens Hydrocephalus Polyhydramnios Pregnancy Ultrasonography, Prenatal X Chromosome | ||
| 10 (33.8%) |
539601 |
Pentasomy X with multiple dislocations. Dryer RF, Patil SR, Zellweger HU, Simpson JM, Hanson JW, Aschenbrenner C, Weinstein SL. Am J Med Genet. 1979;4(4):313-21. |
| Elbow dislocation | ||
| Child Differential Diagnosis Females Homo sapiens Intellectual Disability Sex Chromosome Aberrations Shoulder Dislocation Syndrome X Chromosome |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001357 | Plagiocephaly | Frequent (79-30%) |
| HP:0001773 | Short foot | Frequent (79-30%) |
| HP:0002974 | Radioulnar synostosis | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000823 | Delayed puberty | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
| HP:0010978 | Abnormality of immune system physiology | Occasional (29-5%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000786 | Primary amenorrhea | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0003042 | Elbow dislocation | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|