Abstract
BackgroundRing chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities, and mental and motor problems among others. Only 97 clinical cases of ring chromosome 15 syndrome have been reported since 1966 and a common phenotype for these patients has not been established.Case presentationThe present case report describes a 15-month-old girl from the Amazon region of Ecuador, of Mestizo ancestry, who after cytogenetic tests showed a 46,XX,r(15) karyotype in more than 70% of metaphases observed. Her parents were healthy and non-related. The pregnancy was complicated and was positive for intrauterine growth retardation. Her birth weight was 1950 g, her length was 43.5 cm, and she had a head circumference of 29.3. In addition to postnatal growth delay, she had scant frontal hair, small eyes, hypertelorism, low-set of ears, flattened nasal bridge, anteverted nostrils, down-turned mouth, three café au lait spots, and delayed dentition.ConclusionsDespite the frequency of some phenotypes expressed in the different clinical cases reviewed and the present case, a common phenotype for patients with ring 15 could not be determined and it is restricted to the region of the chromosome lost during the ring formation.
Highlights
Ring chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities, and mental and motor problems among others
Further clinical features ranged from cardiac problems to digit and musculoskeletal abnormalities. Dysmorphic features, such as growth retardation, triangular faces, eye abnormalities, and developmental abnormalities are common features defined in ring 15 syndrome, which in this case report is
It has been reported that gene expression variability is highly related to Copy number variation (CNV) larger than 40 kb, which is consistent with the number of copies lost in this study [13]
Summary
Ring chromosome 15 syndrome shows a heterogeneous phenotype which is dependent on the region and the genes involved in the break, there are some traits like the ones shown in Figs. 2 and 3 that have more than 40% frequency in the individual cases reviewed. 2 and 3 that have more than 40% frequency in the individual cases reviewed. Those traits can be suspected to be the shared phenotype of r(15) syndrome. Further investigation and description of patients’ cases could provide an insight to the genetic aberrations involved in ring chromosome 15 disorders, in order to offer more information on the genes and the genomic regions affected
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
