15q11q13 duplication syndrome, with which the patient was diagnosed, is a neurodevelopmental disorder that arises as a consequence of duplication on chromosome 15 (1). The patient had non-verbal ...

15q11-q13 microduplication syndrome, a genetic disorder caused by duplications in the 15q11-q13 region, has been associated with autism spectrum disorder (ASD); however, research on chromosome 15 ...

People with Williams Syndrome treat strangers as their new best friends. Now the condition is revealing clues to our ...

Prader-Willi syndrome affects the paternal copy of chromosome 15, and in most cases — around 60% or 70% — the PWS/AS region is randomly deleted during development. Meanwhile, the maternal PWS ...

The chromosome 22q11.2 region is prone to recurrent rearrangements due to the presence of low-copy repeats. A common 3 Mb microdeletion causes the well-characterised DiGeorge syndrome (DGS). The ...

Segmental duplication (SD) regions are unique biomarkers ... including three common types of trisomy (red), and four sex chromosome aneuploidies: Turner syndrome (orange), Triple X syndrome (green), ...

Pallister-Killian syndrome ... chromosome consisting of 12p material. Clusters of telomeric repeats were found at the both ends of the sSMC. Furthemore, the results of aCGH and qPCR indicate the ...

After 3 miscarraiges, my sister went for genetic testing. It was found that she had an 'extra' piece of dna attached to Chromosome 15. Could this be the reason for the miscarraiges - she carries fine ...

Inverted duplication deletions (inv dup-del) in 4p are particularly rare. Case 1 describes a 15-year-old ... Rearrangements of chromosome 4p mainly cause two different clinical entities: partial 4p ...

It usually takes place in the second trimester after 15 weeks of ... the genes located on chromosome 21 and why their duplication might cause some of the features of Down syndrome, such as the ...