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.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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(per page)
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.
26213576
(4514952)
 OTHER
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.
We report a case of a 3-year-old girl with mosaic ring chromosome 6 who presented with being small for gestational age and intellectual disability, and whose brain MRI later revealed periventricular heterotopia and white matter abnormalities.