| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (50.0%) |
19732877 |
47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development. Brambila-Tapia AJ, Rivera H, Garcia-Castillo H, Dominguez-Quezada MG, Davalos-Rodriguez IP. Fertil Steril. 2009;92(5):1747.e5-7. |
| Short neck Low posterior hairline Cubitus valgus | ||
| Chromosomes, Human, X Females Gonadal Dysgenesis, 46,XX Homo sapiens Mosaicism Phenotype Puberty Sex Chromosome Aberrations Trisomy Turner Syndrome Young Adult | ||
| 2 (40.0%) |
23912296 |
[Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype]. Pachajoa H. Arch Argent Pediatr. 2013;111(4):e101-4. |
| Intrauterine growth retardation Overlapping fingers | ||
| Aneuploidy Chromosomes, Human, Pair 18 Chromosomes, Human, X Females Homo sapiens Infant, Newborn Phenotype Sex Chromosome Aberrations Sex Chromosome Disorders of Sex Development Trisomy Trisomy 18 Syndrome | ||
| 2 (40.0%) |
7246607 |
Double trisomy 48,XXX,+ 18 in a newborn. Rosenfeld W, Verma RS, Jhaveri RC, Salazar D, Dosik H. Am J Med Genet. 1981;8(1):67-71. |
| Overlapping fingers | ||
| Chromosome Banding Chromosomes, Human, 16-18 Congenital Heart Defects Dermatoglyphics Females Fingers Homo sapiens Phenotype Pregnancy Sex Chromosome Aberrations Sex Chromosomes Trisomy X Chromosome | ||
| 4 (39.7%) |
7281903 |
[Radioulnar synostosis as characteristic feature of chromosome aberrations (author's transl)]. Kusswetter W, Heisel A. Z Orthop Ihre Grenzgeb. 1981;119(1):10-3. |
| Radioulnar synostosis | ||
| Child Chromosome Aberrations Females Homo sapiens Male Sex Chromosomes | ||
| 5 (39.0%) |
26353463 |
[Gastrointestinal obstruction in the mosaic trisomy X]. Cammarata-Scalisi F, Araque D, Stock F, Molina M, Rodriguez R, Vazquez G, Cammarata-Scalisi G, Cammarata-Scalisi ME. Acta Gastroenterol Latinoam. 2015;45(2):129-32. |
| Microcephaly | ||
| Child, Preschool Chromosomes, Human, X Females Gastrointestinal Diseases Homo sapiens Intestinal Obstruction Sex Chromosome Aberrations Sex Chromosome Disorders of Sex Development Trisomy | ||
| 5 (39.0%) |
23056899 (3446055) |
Triple x syndrome with short stature: case report and literature review. Li M, Zou C, Zhao Z. Iran J Pediatr. 2012;22(2):269-73. |
| Microcephaly | ||
| IGF1 | ||
| 5 (39.0%) |
20160426 |
Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature. Bagci S, Muller A, Franz A, Heydweiller A, Berg C, Nothen MM, Bartmann P, Reutter H. Fetal Diagn Ther. 2010;27(2):113-7. |
| Encephalocele | ||
| Adult Amniocentesis Aneuploidy Chromosomes, Human, X Congenital Heart Defects Females Gestational Age Homo sapiens Infant, Newborn Infant, Premature, Diseases Intestinal Atresia Pregnancy Preterm Infant Sex Chromosome Aberrations Ultrasonography, Prenatal | ||
| 5 (39.0%) |
11015706 |
Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18. Chen CP, Chern SR, Yeh LF, Chen WL, Chen LF, Wang W. Prenat Diagn. 2000;20(9):750-3. |
| Enlarged cisterna magna | ||
| Adult Chromosomes, Human, Pair 18 DNA Females Fetal Growth Retardation Fluorescence Homo sapiens Male Polyhydramnios Polymerase Chain Reaction Pregnancy Sex Chromosome Aberrations Short Tandem Repeat Trisomy Ventricular Septal Defects X Chromosome | ||
| 9 (37.2%) |
9919878 |
[Turner's syndrome--case report of a female patient with chromosome mosaicism]. Roglic A, Kastelan D, Kozic-Rukavina B, Korsic M. Lijec Vjesn. 1998;120(7-8):210-2. |
| Broad neck Shield chest | ||
| Females Homo sapiens Middle Aged Mosaicism Pregnancy Turner Syndrome | ||
| 10 (31.0%) |
8301657 |
46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty. Jarvela IE, Salo MK, Santavuori P, Salonen RK. J Med Genet. 1993;30(11):966-7. |
| Hypothyroidism Syndactyly | ||
| Brain Diploidy Females Homo sapiens Hypothyroidism Infant, Newborn Intellectual Disability Limb Deformities, Congenital Mosaicism Polyploidy Precocious Puberty West Syndrome |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0000098 | Tall stature | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001328 | Specific learning disability | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000716 | Depressivity | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000869 | Secondary amenorrhea | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001337 | Tremor | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
Total: 27
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000098 | Tall stature | 4 |
| HP:0000789 | Infertility | 3 |
| HP:0001909 | Leukemia | 3 |
| HP:0008209 | Premature ovarian insufficiency | 3 |
| HP:0000135 | Hypogonadism | 2 |
| HP:0000133 | Gonadal dysgenesis | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000739 | Anxiety | 1 |
| HP:0000786 | Primary amenorrhea | 1 |
| HP:0000815 | Hypergonadotropic hypogonadism | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000855 | Insulin resistance | 1 |
| HP:0001067 | Neurofibromas | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001622 | Premature birth | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0002488 | Acute leukemia | 1 |
| HP:0002974 | Radioulnar synostosis | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004796 | Gastrointestinal obstruction | 1 |
| HP:0007565 | Multiple cafe-au-lait spots | 1 |
| HP:0009125 | Lipodystrophy | 1 |
| HP:0010464 | Streak ovary | 1 |
| HP:0011003 | High myopia | 1 |
| HP:0100621 | Dysgerminoma | 1 |
| HP:0100817 | Renovascular hypertension | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|