Ring chromosome 15 syndrome

Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).



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Narrow down the case reports



Total: 30 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
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
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    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


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID