10.6084/m9.figshare.5139844.v1
Liu S.
Liu
S.
Zhang K.
Zhang
K.
Song F.
Song
F.
Yang Y.
Yang
Y.
Lv Y.
Lv
Y.
Gao M.
Gao
M.
Liu Y.
Liu
Y.
Gai Z.
Gai
Z.
Supplementary Material for: Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking
Karger Publishers
2017
Angelman syndrome
Chromosome microarray analysis
Heterodisomy
Imprinted genes
Isodisomy
Prader-Willi syndrome
Uniparental disomy
2017-06-23 10:05:20
Dataset
https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Uniparental_Disomy_of_Chromosome_15_in_Two_Cases_by_Chromosome_Microarray_A_Lesson_Worth_Thinking/5139844
<p>Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are
neurogenetic disorders caused by loss of function of the imprinted genes
at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region
15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of
patients, the PWS/AS phenotype can result from maternal/paternal
uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to
UPD include gametic complementation, trisomy rescue, and compensatory
UPD, which can be inferred from the pattern of uniparental heterodisomy
(heteroUPD) or uniparental isodisomy (isoUPD). However, heteroUPD and
isoUPD, especially mixed heteroUPD and isoUPD, are very rare in patients
with PWS/AS. Here, we report 2 children with PWS/AS caused by mixed
segmental heteroUPD 15 and isoUPD 15 which failed to be identified by
chromosome microarray (CMA) but could be detected by other molecular
genetic methods. The present report unravels the mechanism of mixed
iso/heteroUPD 15 in PWS/AS and phenotype-genotype correlations.
Moreover, our study suggests that CMA is prone to misdiagnosis for
imprinting disorders such as PWS/AS, though it is considered a highly
useful tool for copy number variations. As a result, other molecular
detection methods, such as methylation analysis and STR marker analysis
for UPD, should be supplementary used in this situation.</p>