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)
8
(39.0%)		 8905901
 Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus.
Walker ME, Lynch-Salamon DA, Milatovich A, Saal HM.
Prenat Diagn. 1996;16(9):857-61.
Microcephaly
Amniocentesis Chromosomes, Human, Pair 6 Females Genetic Counseling Homo sapiens Hydrocephalus Infant, Newborn Male Pregnancy Ring Chromosomes Ultrasonography, Prenatal
8
(39.0%)		 7091194
 Ring chromosome 6: case report and review.
Nishi Y, Yoshimura O, Ohama K, Usui T.
Am J Med Genet. 1982;12(1):109-14.
Microcephaly
TMED2 TMED9
Body Height Child Chromosome Aberrations Chromosome Banding Chromosomes, Human, 6-12 and X Females Growth Disorders Homo sapiens Intelligence Microcephaly Mosaicism
13
(23.3%)		 18302251
 Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman.
Hockner M, Utermann B, Erdel M, Fauth C, Utermann G, Kotzot D.
Am J Med Genet A. 2008;146A(7):925-9.
Scoliosis
DUSP22 RP1
Adult Base Sequence Chromosomes, Human, Pair 6 DNA Primers Genomic Imprinting Growth Disorders Homo sapiens Male Ring Chromosomes
14
(21.2%)		 29080333
(5687301)
 Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.
Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB.
Am J Med Genet A. 2017;173(12):3205-3210.
Osteopenia
Bone Cysts, Aneurysmal Chromosome Banding Chromosomes, Human, Pair 6 Cytogenetic Analysis Genetic Markers Homo sapiens Male Mosaicism Osteochondrodysplasias Phenotype Ring Chromosomes
15
(4.0%)		 26213576
(4514952)
 Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.
Nishigaki S, Hamazaki T, Saito M, Yamamoto T, Seto T, Shintaku H.
Mol Cytogenet. 2015;8:54.
Intellectual disability
15
(4.0%)		 25000470
 Treatment-related myelodysplastic syndrome in a child with acute myeloid leukemia and TPMT heterozygosity.
Stensman LM, Kjeldsen E, Nersting J, Schmiegelow K, Hasle H.
J Pediatr Hematol Oncol. 2015;37(4):e242-4.
Thrombocytopenia
TPMT
Antimetabolites, Antineoplastic Child Heterozygote Homo sapiens Leukemia, Myelocytic, Acute Male Methyltransferase
15
(4.0%)		 22876064
(3410245)
 Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.
Lee SJ, Han DK, Cho HJ, Cho YK, Ma JS.
J Korean Med Sci. 2012;27(8):948-52.
Failure to thrive
Chromosomes, Human, Pair 6 Homo sapiens Infant Male Ring Chromosomes Ultrasonography X-Ray Computed Tomography
15
(4.0%)		 18661024
 Multiple-sited amyloidosis in the upper aerodigestive tract: case report and literature review.
Passerotti GH, Caniello M, Hachiya A, Santoro PP, Imamura R, Tsuji DH.
Braz J Otorhinolaryngol. 2008;74(3):462-6.
Dysphagia
Amyloidosis Deglutition Disorders Females Homo sapiens Laryngeal Diseases Middle Aged Pharyngeal Diseases Severity of Illness Index
15
(4.0%)		 17175386
 Tiling resolution array comparative genomic hybridization analysis of a fibrosarcoma of bone.
Hallor KH, Heidenblad M, Brosjo O, Mandahl N, Mertens F.
Cancer Genet Cytogenet. 2007;172(1):80-3.
Neoplasm
Child Chromosomes, Human, Pair 6 Females Fibrosarcoma Fluorescent in Situ Hybridization Homo sapiens Magnetic Resonance Imaging Ring Chromosomes
15
(4.0%)		 16053913
 Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature.
Andrieux J, Devisme L, Valat AS, Robert Y, Frnka C, Savary JB.
Eur J Med Genet. 2005;48(2):199-206.
Agenesis of corpus callosum
Adult Cerebellum Chromosome Banding Chromosomes, Human, Pair 6 Corpus Callosum Craniofacial Abnormalities Females Homo sapiens Magnetic Resonance Imaging Male Phenotype Pregnancy Ring Chromosomes Ultrasonography, Prenatal
        

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