Ring chromosome 10 syndrome

An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.



Input patient's signs and symptoms


Narrow down the case reports



Total: 8 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(52.4%)		 6842550
 Ring chromosome 10 and its clinical features.
Nakai H, Adachi M, Katsushima N, Yamazaki N, Sakamoto M, Tada K.
J Med Genet. 1983;20(2):142-4.
Microcephaly Single transverse palmar crease
Child, Preschool Chromosome Aberrations Chromosomes, Human, 6-12 and X Growth Disorders Homo sapiens Intellectual Disability Male
2
(40.2%)		 7025632
 Phenotype associated with ring 10 chromosome: report of patient and review of literature.
Michels VV, Driscoll DJ, Ledbetter DH, Riccardi VM.
Am J Med Genet. 1981;9(3):231-7.
Microcephaly Prominent nasal bridge
PSMB8
Chromosome Aberrations Chromosomes, Human, 6-12 and X Growth Disorders Homo sapiens Intellectual Disability Male Phenotype
2
(40.2%)		 6705254
 Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.
Kondo I, Shimakura Y, Hirano T, Kaneko M, Yabuta K.
Clin Genet. 1984;25(2):196-200.
Microcephaly Pointed chin
Child, Preschool Chromosome Aberrations Chromosomes, Human, 6-12 and X Growth Disorders Homo sapiens Hydronephrosis Intellectual Disability Male Phenotype
4
(39.0%)		 25922618
(4411697)
 Clinical, cytogenetic and molecular study of a case of ring chromosome 10.
iuladait , Burnyt B, Vanseviiut D, Dagyt E, Kuinskas V, Utkus A.
Mol Cytogenet. 2015;8:29.
Microcephaly
4
(39.0%)		 19968867
(2794276)
 Chromosome r(10)(p15.3q26.12) in a newborn child: case report.
Gunnarsson C, Graffmann B, Jonasson J.
Mol Cytogenet. 2009;2:25.
Microcephaly
6
(22.8%)		 21914491
 Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.
Christopoulou G, Tzetis M, Konstantinidou AE, Tsezou A, Kanavakis E, Kitsiou-Tzeli S, Velissariou V.
Eur J Med Genet. 2012;55(1):75-9.
Talipes equinovarus
Amniocentesis Autopsy Chromosome Deletion Chromosomes, Human, Pair 10 Fatal Outcome Females Fetus Genetic Association Studies Gestational Age Homo sapiens Male Pregnancy Pregnancy Outcome Ring Chromosomes Ultrasonography, Prenatal
7
(21.2%)		 23247912
 Ring chromosome 10: report on two patients and review of the literature.
Guilherme RS, Kim CA, Alonso LG, Honjo RS, Meloni VA, Christofolini DM, Kulikowski LD, Melaragno MI.
J Appl Genet. 2013;54(1):35-41.
Osteopenia
Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 10 Females Fluorescent in Situ Hybridization Homo sapiens Male Multiplex Polymerase Chain Reaction Ring Chromosomes
8
(4.0%)		 15627745
 First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature.
Trimborn M, Grueters A, Neitzel H, Tonnies H.
Cytogenet Genome Res. 2005;108(4):278-82.
Short stature
ENDOU
Chromosomes, Human, Pair 10 Cytogenetic Analysis Developmental Disabilities Euchromatin Females Growth Disorders Homo sapiens Phenotype Ring Chromosomes
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000767 Pectus excavatum Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001852 Sandal gap Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002251 Aganglionic megacolon Very frequent (99-80%)
HP:0002901 Hypocalcemia Very frequent (99-80%)
HP:0004326 Cachexia Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0009748 Large earlobe Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0000252 Microcephaly 3
HP:0000126 Hydronephrosis 2
HP:0000307 Pointed chin 1
HP:0000316 Hypertelorism 1
HP:0000426 Prominent nasal bridge 1
HP:0000486 Strabismus 1
HP:0001762 Talipes equinovarus 1
HP:0002099 Asthma 1
HP:0004322 Short stature 1
HP:0008897 Postnatal growth retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID