Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (63.5%) |
24551985 |
Ring chromosome 15: expanding the phenotype. Eid MM, El-Bassyouni HT, Eid OM, Hamad SA, Elgerzawy A, Zaki MS, El-Ruby M. Genet Couns. 2013;24(4):417-25. |
Frontal bossing Small hand | ||
Child, Preschool Chromosomes, Human, Pair 15 Females Homo sapiens Hyperpigmentation Mosaicism Phenotype Ring Chromosomes | ||
2 (59.0%) |
29090019 (5657133) |
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15. Tewari S, Lubna N, Shah R, Al-Rikabi ABH, Shah K, Sheth J, Sheth F. Mol Cytogenet. 2017;10:38. |
Triangular face Micrognathia | ||
IGF1R | ||
2 (59.0%) |
27192887 |
A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS. Solmaz AE, Durmaz B, Braekeleer MD, Cogulu O, Ozkinay F. Genet Couns. 2016;27(1):1-8. |
Triangular face Micrognathia | ||
CHSY1 | ||
Child Chromosome Deletion Chromosomes, Human, Pair 15 Cytogenetics Females Fluorescent in Situ Hybridization Glucuronosyltransferase Homo sapiens Language Development Disorders Multifunctional Enzymes N-Acetylgalactosaminyltransferases | ||
4 (57.8%) |
16830338 |
A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14. Zou YS, McGrann PS, Uphoff TS, Van Dyke DL. Am J Med Genet A. 2006;140(15):1663-8. |
Micrognathia | ||
ENDOU | ||
Angelman Syndrome Chromosomes Chromosomes, Human, Pair 15 DNA Methylation DNA, Satellite Females Fluorescent in Situ Hybridization Homo sapiens Methylation Mosaicism Phenotype Prader-Willi Syndrome Small Nuclear Ribonucleoproteins | ||
5 (54.3%) |
3278612 |
Two patients with ring chromosome 15 syndrome. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA 3rd. Am J Med Genet. 1988;29(1):149-54. |
Microcephaly Brachydactyly Frontal bossing | ||
Child Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 15 Females Growth Disorders Homo sapiens Intellectual Disability Male Microcephaly Ring Chromosomes Speech Disorders Syndrome | ||
6 (53.2%) |
4040173 |
Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. Wilson GN, Sauder SE, Bush M, Beitins IZ. J Med Genet. 1985;22(3):233-6. |
Microcephaly Finger clinodactyly | ||
Chromosome Aberrations Chromosomes, Human, 13-15 Dwarfism Face Females Fetal Growth Retardation Homo sapiens Male Phenotype Pregnancy Ring Chromosomes Syndrome | ||
7 (47.6%) |
7506614 |
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K, Niikawa N. Clin Dysmorphol. 1993;2(2):106-13. |
Triangular face Clinodactyly | ||
IGF1R | ||
Child Chromosome Aberrations Chromosomes, Human, Pair 15 Congenital Hand Deformities Developmental Disabilities Face Females Fetal Growth Retardation Homo sapiens Insulin-Like Growth Factor I Insulin-Like Growth Factor Receptor Intellectual Disability Male Ring Chromosomes Syndrome | ||
8 (40.2%) |
1576754 |
Familial occurrence of ring chromosome 15. Horigome Y, Kondo I, Kuwajima K, Suzuki T. Clin Genet. 1992;41(4):178-80. |
Microcephaly Triangular face | ||
SON | ||
Adult Chromosomes, Human, Pair 15 Face Females Growth Disorders Homo sapiens Infant Intellectual Disability Male Reproduction Ring Chromosomes Syndrome | ||
9 (39.0%) |
22958471 (3459701) |
Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report. Guilherme RS, Meloni Vde F, Takeno SS, Pellegrino R, Brunoni D, Kulikowski LD, Melaragno MI. J Med Case Rep. 2012;6:283. |
Microcephaly | ||
9 (39.0%) |
21995437 |
Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome. Boente Mdel C, Bazan C, Montanari D. Pediatr Dermatol. 2011;28(6):670-3. |
Microcephaly | ||
Cafe-au-Lait Spots Child, Preschool Chromosomes, Human, Pair 15 Developmental Disabilities Facies Failure to Thrive Females Homo sapiens Infant Microcephaly Mosaicism Pigmentation Disorders Ring Chromosomes Syndrome |
Total: 0
HPO ID | Term | Frequency |
---|
Total: 14
HPO ID | Term | # of case reports |
---|---|---|
HP:0000957 | Cafe-au-lait spot | 4 |
HP:0001510 | Growth delay | 2 |
HP:0000252 | Microcephaly | 1 |
HP:0000316 | Hypertelorism | 1 |
HP:0000325 | Triangular face | 1 |
HP:0000486 | Strabismus | 1 |
HP:0001508 | Failure to thrive | 1 |
HP:0001511 | Intrauterine growth retardation | 1 |
HP:0001629 | Ventricular septal defect | 1 |
HP:0002007 | Frontal bossing | 1 |
HP:0008897 | Postnatal growth retardation | 1 |
HP:0040019 | Finger clinodactyly | 1 |
HP:0100790 | Hernia | 1 |
HP:0200055 | Small hand | 1 |
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|