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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Total: 30 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
17
(4.0%)		 24991444
(4065758)
 Ophthalmic treatment and vision care of a patient with rare ring chromosome 15: a case report.
Puchalska-Niedbal L, Zajczek S, Petriczko E, Kulik U.
Case Rep Pediatr. 2014;2014:285132.
Strabismus
17
(4.0%)		 16267671
 Ring chromosome 15: characterization by array CGH.
Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD.
Hum Genet. 2006;118(5):611-7.
Short stature
Adult Chromosome Aberrations Chromosomes, Human, Pair 15 Females Fluorescent in Situ Hybridization Genotype Homo sapiens Phenotype Pregnancy Ring Chromosomes
17
(4.0%)		 15384084
 Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
Tumer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K.
Am J Med Genet A. 2004;130A(4):340-4.
Postnatal growth retardation
IGF1R NR2F2
Adult Chromosomes, Human, Pair 15 Females Fetal Growth Retardation Fluorescent in Situ Hybridization Gene Deletion Homo sapiens Infant, Newborn Pregnancy Pregnancy Outcome Ring Chromosomes Short Tandem Repeat
17
(4.0%)		 14577679
 A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion.
Morava E, Bartsch O, Czako M, Frensel A, Karteszi J, Kosztolanyi GY.
Genet Couns. 2003;14(3):337-42.
Cafe-au-lait spot
Cafe-au-Lait Spots Child, Preschool Chromosomes, Human, Pair 15 Cytogenetic Analysis DNA Probes Females Fluorescent in Situ Hybridization Homo sapiens Hyperpigmentation Ring Chromosomes
17
(4.0%)		 7789178
 Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome.
Peoples R, Milatovich A, Francke U.
Cytogenet Cell Genet. 1995;70(3-4):228-34.
Short stature
IGF1R
Child Child, Preschool Chromosomes, Human, Pair 15 DNA DNA, Satellite Females Genetic Markers Growth Growth Disorders Homo sapiens Infant Insulin-Like-Growth Factor I Receptor Lymphocyte Male Ring Chromosomes Syndrome
17
(4.0%)		 7449181
 Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype.
Meinecke P, Koske-Westphal T.
Clin Genet. 1980;18(6):428-33.
Short stature
Adult Chromosome Aberrations Chromosome Banding Chromosomes, Human, 13-15 Craniofacial Dysostosis Dermatoglyphics Homo sapiens Intellectual Disability Male Phenotype
17
(4.0%)		 6220608
 A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.
Neri G, Ricci R, Pelino A, Bova R, Tedeschi B, Serra A.
Am J Med Genet. 1983;14(2):307-14.
Spontaneous abortion
Adult Child Chromosome Aberrations Chromosome Mapping Chromosomes, Human, 13-15 Facial Expression Females Genetic Polymorphism Growth Disorders Hexosaminidases Homo sapiens Lymphocyte Male Mannosidase
17
(4.0%)		 6156798
 Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability.
Ledbetter DH, Riccardi VM, Au WW, Wilson DP, Holmquist GP.
Cytogenet Cell Genet. 1980;27(2-3):111-22.
Chromosome breakage
POLE4
Adult Aneuploidy Bone Diseases, Developmental Chromosome Aberrations Chromosomes, Human, 13-15 Females Growth Disorders Homo sapiens Infant Male Nucleolus Organizer Region Retinal Diseases Silver Sister Chromatid Exchange Staining and Labeling
17
(4.0%)		 1746611
 Ring chromosome 15 and 15qs+ mosaic: clinical and cytogenetic behaviour spanning 29 years.
Smith A, den Dulk G, Viersbach R, Michas J.
Am J Med Genet. 1991;40(4):460-3.
Dementia
Adult Face Females Homo sapiens Intellectual Disability Longitudinal Studies Mosaicism Phenotype Ring Chromosomes Syndrome
17
(4.0%)		 572892
 The child with chromosome ring 15.
Wisniewski L, Pronicka E, Lech H, Niezabitowska A.
Klin Padiatr. 1979;191(4):429-32.
Short stature
Child Development Chromosome Aberrations Chromosomes, Human, 13-15 Growth Disorders Homo sapiens Infant Male
        

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