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)
9
(39.0%)		 8906535
 Ring chromosome 15 syndrome in an adult female.
Matsuishi T, Yamada Y, Endo K, Sakai H, Fukushima Y.
J Intellect Disabil Res. 1996;40 ( Pt 5):478-80.
Microcephaly
Adult Chromosome Aberrations Chromosomes, Human, Pair 15 Females Homo sapiens Intellectual Disability Ring Chromosomes
9
(39.0%)		 6468449
 Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15.
Otto J, Back E, Furste HO, Abel M, Bohm N, Pringsheim W.
Eur J Pediatr. 1984;142(3):229-31.
Microcephaly
Chromosome Aberrations Chromosomes, Human, 13-15 Females Growth Disorders Homo sapiens Infant Intestines Ventricular Septal Defects
9
(39.0%)		 625984
 [Ring chromosome 15 in a child (author's transl)].
Scheibenreiter S, Frisch H.
Wien Klin Wochenschr. 1978;90(1):22-5.
Microcephaly
Child, Preschool Chromosome Aberrations Chromosomes, Human, 13-15 Females Homo sapiens Infant Infant, Newborn
14
(26.3%)		 500090
 Ring chromosome 15 syndrome.
Fryns JP, Timmermans J, Hondt FD, Francois B, Emmery L, van den Berghe H.
Hum Genet. 1979;51(1):43-8.
Triangular face
Child Chromosome Aberrations Chromosomes, Human, 13-15 Differential Diagnosis Females Growth Disorders Homo sapiens
15
(21.2%)		 9452264
 Evidence of an association between 6q13-21 chromosome aberrations and locally aggressive behavior in patients with cartilage tumors.
Sawyer JR, Swanson CM, Lukacs JL, Nicholas RW, North PE, Thomas JR.
Cancer. 1998;82(3):474-83.
Aggressive behavior Enchondroma
Adult Child Chondroblastoma Chondroma Chondrosarcoma Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 6 Females Fluorescent in Situ Hybridization Homo sapiens Male Middle Aged
16
(17.5%)		 17380471
 Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia.
Hatem E, Meriam BR, Walid D, Adenen M, Moez G, Ali S.
Prenat Diagn. 2007;27(5):471-4.
Intrauterine growth retardation Hernia
Abortion, Eugenic Adult Chromosomes, Human, Pair 15 Diaphragmatic Hernia Differential Diagnosis Females Fetal Growth Retardation Fluorescent in Situ Hybridization Homo sapiens Pregnancy Ring Chromosomes
17
(4.0%)		 30442194
(6238305)
 Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.
Paz-Y-Mino C, Guevara-Aguirre J, Paz-Y-Mino A, Velarde F, Armendariz-Castillo I, Yumiceba V, Hernandez JM, Garcia JL, Leone PE.
J Med Case Rep. 2018;12(1):340.
Hypertelorism
Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 15 Cytogenetics Females Growth Disorders Homo sapiens Infant Phenotype Ring Chromosomes Syndrome
17
(4.0%)		 29226546
 Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.
Szabo A, Czako M, Hadzsiev K, Duga B, Banfai Z, Komlosi K, Melegh B.
Am J Med Genet A. 2018;176(2):443-449.
Intellectual disability
IGF1R PCSK6 SELENOS SNRPA1
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 15 Females Gene Dosage Haploinsufficiency Heart Homo sapiens Insulin-Like Growth Factor Receptor Insulin-Like-Growth Factor I Receptor Male Membrane Proteins Proprotein Convertases Ring Chromosomes Selenoproteins Serine Endopeptidases snRNP Core Proteins
17
(4.0%)		 29223476
 Fecundity in an infertile man with r(15) - a challenge to the current paradigm.
Kalantari H, Karimi H, Almadani SN, Fakhri M, Mokhtari P, Gourabi H, Mohseni Meybodi A.
Reprod Biomed Online. 2018;36(2):210-218.
Cafe-au-lait spot
IGF1R PCSK6 SNRPA1 TM2D3
Adult Chromosomes, Human, Pair 15 Females Homo sapiens Infant, Newborn Male Mosaicism Ring Chromosomes
17
(4.0%)		 27739187
 A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
Quinonez SC, Gelehrter TD, Uhlmann WR.
Am J Med Genet A. 2017;173(1):268-273.
Infertility
FBN1 NF1
Adult Centromere Chromosome Banding Chromosomes, Human, Pair 15 Fluorescent in Situ Hybridization Genetic Association Studies Genetic Counseling Homo sapiens Male Marfan Syndrome Mosaicism Phenotype Ring Chromosomes
        

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