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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 6

                       


(per page)
PMID (PMCID)
29656294
 MIXED_SAMPLE Infant
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.
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.
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.
18485670
 MALE Child
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.
We report an epileptic case of a 10-year-old boy to be mild psychomotor retardation and dysmorphic traits including microcephaly, brachycephaly, flat occiput, large and apparently low set ears, and bilateral syndactyly between his second and third fingers with mosaic ring chromosome 6 and 6q terminal deletion.
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.
511129
 MALE
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.
A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies.
511129
 MALE
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.
The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia.