Ring chromosome 6 syndrome

Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.



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Narrow down the case reports



Total: 26 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
15
(4.0%)		 11857558
 Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis.
Urban M, Bommer C, Tennstedt C, Lehmann K, Thiel G, Wegner RD, Bollmann R, Becker R, Schulzke I, Korner H.
Am J Med Genet. 2002;108(2):97-104.
Hydrocephalus
Chromosomes, Human, Pair 6 Fatal Outcome Females Fetal Death Homo sapiens Male Pregnancy Ring Chromosomes
15
(4.0%)		 9880990
 Brachial to internal jugular vein bypass. A case report.
Kreidy R, Abdelnour E.
J Med Liban. 1998;46(4):222-6.
Hypertension
Blood Vessel Prosthesis Catheterization Homo sapiens Male Middle Aged Renal Dialysis Thrombosis Veins
15
(4.0%)		 8559761
 Prenatal diagnosis of ring chromosome 6.
Dawson AJ, Marles SL, Harman CR, Phillips S, Menticoglou S.
Prenat Diagn. 1995;15(9):872-4.
High maternal serum alpha-fetoprotein
AFP
Adult Amniocentesis Chromosome Banding Chromosomes, Human, Pair 6 Females Homo sapiens Mosaicism Pregnancy Ring Chromosomes alpha-Fetoproteins
15
(4.0%)		 3777023
 Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.
Levin H, Ritch R, Barathur R, Dunn MW, Teekhasaenee C, Margolis S.
Am J Med Genet. 1986;25(2):281-7.
Hydrocephalus
Chromosome Aberrations Chromosomes, Human, Pair 6 Glaucoma Homo sapiens Hydrocephalus Infant Male Ring Chromosomes Uvea
15
(4.0%)		 3314511
 Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6.
Yoshimitsu K, Nishi Y, Kobayashi Y, Yoshimura O, Ohama K, Oguma N, Usui T.
Am J Med Genet. 1987;28(1):211-4.
Decreased superoxide dismutase level
Body Height Child Chromosome Aberrations Chromosomes, Human, Pair 6 Females Homo sapiens Mosaicism Ring Chromosomes
15
(4.0%)		 2829618
 Diagnosis of acute megakaryoblastic leukemia by flow cytometry and immunoalkaline phosphatase techniques. Utilization of new monoclonal antibodies.
Choate JJ, Domenico DR, McGraw TP, Fareed J, Molnar Z, Schumacher HR.
Am J Clin Pathol. 1988;89(2):247-53.
Leukemia
CDK5R1
Acute Disease Acute Megakaryocytic Leukemias Blood Platelets Chromobox Protein Homolog 5 Electron Microscopy Flow Cytometry Histocytochemistry Homo sapiens Immunoenzyme Techniques Male Middle Aged Monoclonal Antibodies Surface Antigens
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0100589 Urogenital fistula Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 24

HPO ID Term # of case reports
HP:0000252 Microcephaly 5
HP:0004322 Short stature 5
HP:0000238 Hydrocephalus 2
HP:0000347 Micrognathia 2
HP:0000526 Aniridia 2
HP:0001249 Intellectual disability 2
HP:0025356 Psychomotor retardation 2
HP:0000248 Brachycephaly 1
HP:0000286 Epicanthus 1
HP:0000316 Hypertelorism 1
HP:0000369 Low-set ears 1
HP:0000470 Short neck 1
HP:0000568 Microphthalmia 1
HP:0000822 Hypertension 1
HP:0001159 Syndactyly 1
HP:0001250 Seizures 1
HP:0001274 Agenesis of corpus callosum 1
HP:0001321 Cerebellar hypoplasia 1
HP:0001518 Small for gestational age 1
HP:0001643 Patent ductus arteriosus 1
HP:0002650 Scoliosis 1
HP:0005469 Flat occiput 1
HP:0007165 Periventricular heterotopia 1
HP:0031837 Decreased superoxide dismutase activity 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID