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.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


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PMID (PMCID)
28344652
(5364590)
 OTHER
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.
In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH.
18302251
 MALE Adult
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.
Here, we report on a 25-year-old woman with short stature, minor scoliosis, normal fertility, appropriate psychomotor development, minor dysmorphisms, and a de novo ring chromosome 6.
11857558
 MIXED_SAMPLE
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.
In contrast, there are two reports on children with a ring chromosome 6 who had short stature, normal appearance, and a normal or almost-normal psychomotor development.
7091194
 FEMALE Child
Ring chromosome 6: case report and review.
Nishi Y, Yoshimura O, Ohama K, Usui T.
Am J Med Genet. 1982;12(1):109-14.
A ring chromosome 6 was identified in an apparently healthy girl with short stature and microcephaly.
517581
 MALE Child
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.
We describe a boy with a ring chromosome 6 and short stature, mild micrognathia, and bilateral transitional/simian creases.