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)
1
(63.5%)		 511129
 Ring chromosome 6: case report and review of literature.
Kini KR, Van Dyke DL, Weiss L, Logan MS.
Hum Genet. 1979;50(2):145-9.
Epicanthus Micrognathia
Child, Preschool Chromosome Aberrations Chromosome Banding Chromosomes, Human, 6-12 and X Growth Disorders Homo sapiens Intellectual Disability Male Microcephaly Phenotype Seizures Syndrome
2
(58.9%)		 21063149
 De novo ring chromosome 6 in a child with multiple congenital anomalies.
Ahzad HA, Ramli SF, Loong TM, Salahshourifar I, Zilfalil BA, Yusoff NM.
Kobe J Med Sci. 2010;56(2):E79-84.
Microcephaly Micrognathia Finger clinodactyly
TPPP
Chromosome Painting Chromosomes, Human, Pair 6 Homo sapiens Infant Male Phenotype Ring Chromosomes
3
(57.8%)		 7205202
 [Phenotype of a ring-chromosome 6 carrier. Clinical and cytogenetic study].
Cruz-Marin F, Gilgenkrantz S, Gregoire MJ, Beley G, Pierson M.
J Genet Hum. 1980;28(4):95-104.
Microcephaly Micrognathia
Chromosome Aberrations Chromosomes, Human, 6-12 and X Dermatoglyphics Dwarfism Homo sapiens Infant Male Phenotype Psychomotor Disorders
3
(57.8%)		 3544845
 Ring chromosome 6: report of a patient and literature review.
Chitayat D, Hahm SY, Iqbal MA, Nitowsky HM.
Am J Med Genet. 1987;26(1):145-51.
Micrognathia
Chromosome Aberrations Chromosomes, Human, Pair 6 Factor XII Homo sapiens Infant Intellectual Disability Male P Blood-Group System Ring Chromosomes
3
(57.8%)		 517581
 Ring chromosome 6 in a child with minimal abnormalities.
Carnevale A, Blanco B, Castillo J, del Castillo V, Dominguez D.
Am J Med Genet. 1979;4(3):271-7.
Micrognathia
HLA-DMA
Body Height Child Chromosome Aberrations Chromosomes, Human, 6-12 and X Homo sapiens Male Micrognathism
3
(57.8%)		 314259
 Chromosome 6q- and associated malformations.
Liberfarb RM, Atkins L, Holmes LB.
Ann Genet. 1978;21(4):223-5.
Microcephaly Micrognathia
Chromosome Banding Chromosome Deletion Chromosomes, Human, 6-12 and X Females Homo sapiens Infant Intellectual Disability Microcephaly Micrognathism Psychomotor Disorders
7
(48.8%)		 18485670
 An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.
Kara N, Okten G, Gunes SO, Saglam Y, Tasdemir HA, Pinarli FA.
Epilepsy Res. 2008;80(2-3):219-23.
Brachycephaly Syndactyly
Child Chromosome Deletion Chromosomes, Human, Pair 6 Epilepsy Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Male Microcephaly Ring Chromosomes
8
(39.0%)		 30305128
(6180451)
 A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.
Sheth F, Liehr T, Shah V, Shah H, Tewari S, Solanki D, Trivedi S, Sheth J.
Ital J Pediatr. 2018;44(1):114.
Microcephaly
Child Chromosomes, Human, Pair 6 Developmental Disabilities Facies Homo sapiens Intellectual Disability Male Microcephaly Ring Chromosomes
8
(39.0%)		 29656294
 Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review.
Liu S, Wang Z, Wei S, Liang J, Chen N, OuYang H, Zeng W, Chen L, Xie X, Jiang J.
Cytogenet Genome Res. 2018;154(4):201-208.
Microcephaly
Adult Child Child, Preschool Chromosomes, Human, Pair 6 Developmental Disabilities Face Females Follow-Up Studies Gray Matter Homo sapiens Infant Intellectual Disability Male Microcephaly Middle Aged Ring Chromosomes
8
(39.0%)		 28344652
(5364590)
 Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.
Pace NP, Maggouta F, Twigden M, Borg I.
Mol Cytogenet. 2017;10:9.
Microcephaly
FOXC1
        

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