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Pregled bibliografske jedinice broj: 633635

Evaluation of chromosomal mosaicism by aCGH and MLPA: molecular characterization of mosaic ring chromosome 22


Merkaš, Martina; Gotovac, Kristina; Liehr, Thomas; Borovečki Fran
Evaluation of chromosomal mosaicism by aCGH and MLPA: molecular characterization of mosaic ring chromosome 22 // Book of abstracts of 12th European Symposium on Congenital Anomalies /
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 71-71 (poster, međunarodna recenzija, sažetak, znanstveni)


CROSBI ID: 633635 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Evaluation of chromosomal mosaicism by aCGH and MLPA: molecular characterization of mosaic ring chromosome 22

Autori
Merkaš, Martina ; Gotovac, Kristina ; Liehr, Thomas ; Borovečki Fran

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Book of abstracts of 12th European Symposium on Congenital Anomalies / / - Zagreb : European Surveillance of Congenital Anomalies Association, 2013, 71-71

Skup
12th European Symposium on Congenital Anomalies

Mjesto i datum
Zagreb, Hrvatska, 14.06.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
array CGH; MLPA; ring chromosome 22; mosaicism; FISH

Sažetak
The clinical phenotype of 22q13.3 deletion syndrome may include different clinical features like developmental delay, dysmorphic face and autistic-like behavior. In case of mosaic ring chromosome 22, associated frequently with partial monosomies, variable clinical manifestations may be seen. Those are thought to be due to different sizes of deleted subregions at 22qter and the grade of mosaicism. The size of the deletion may range from none at all in asymptomatic cases, to 100 kb and more than 9Mb in symptomatic ones. In some cases mosaicism may go undetected as the presence of normal cells can mask the presence of abnormal cells ; also size of mosaics can vary in different tissues of the patients’ body. To evaluate the sensitivity of MLPA and aCGH in detecting mosaicism, we studied a de novo mosaic ring chromosome 22 in a 5 year old girl diagnosed with autism. Banding analyses revealed a karyotype mos 46, XX[58]/46, XX, r(22)(p12q13.3)[42]. FISH analysis using commercially available probes for subtelomere 22qter and all telomeres showed a terminal deletion in the ring chromosome. Further characterization of the r(22) by aCGH using Agilent SurePrintG3 Microarray 4x180K narrowed down the deletion to the distal band 22q13.3, 0.84 Mb in size. In total, 34 genes were deleted, including all genes distal from ALG12. Subsequent MLPA analysis showed a discrepancy between different kits. Two subtelomere-kits (P036 and P070) did not detect the deletion, but the Microdeletion syndrome-1-kit (P245) clearly revealed deletion of SHANK3-gene. However, Autism-1-kit (P343) only revealed decreased values for probes targeting SHANK3-gene. Here we could show that MLPA is less sensitive in detecting mosaicism than aCGH. Difficulties in the interpretation of certain MLPA probe sets are probably due to the probes present in the corresponding kits. Consequently, this can affect the diagnostic potential of MLPA technique in general and especially for detection of mosaic cases.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Ustanove:
Medicinski fakultet, Zagreb


Citiraj ovu publikaciju:

Merkaš, Martina; Gotovac, Kristina; Liehr, Thomas; Borovečki Fran
Evaluation of chromosomal mosaicism by aCGH and MLPA: molecular characterization of mosaic ring chromosome 22 // Book of abstracts of 12th European Symposium on Congenital Anomalies /
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 71-71 (poster, međunarodna recenzija, sažetak, znanstveni)
Merkaš, M., Gotovac, K., Liehr, T. & Borovečki Fran (2013) Evaluation of chromosomal mosaicism by aCGH and MLPA: molecular characterization of mosaic ring chromosome 22. U: Book of abstracts of 12th European Symposium on Congenital Anomalies /.
@article{article, author = {Merka\v{s}, Martina and Gotovac, Kristina and Liehr, Thomas}, year = {2013}, pages = {71-71}, keywords = {array CGH, MLPA, ring chromosome 22, mosaicism, FISH}, title = {Evaluation of chromosomal mosaicism by aCGH and MLPA: molecular characterization of mosaic ring chromosome 22}, keyword = {array CGH, MLPA, ring chromosome 22, mosaicism, FISH}, publisher = {European Surveillance of Congenital Anomalies Association}, publisherplace = {Zagreb, Hrvatska} }
@article{article, author = {Merka\v{s}, Martina and Gotovac, Kristina and Liehr, Thomas}, year = {2013}, pages = {71-71}, keywords = {array CGH, MLPA, ring chromosome 22, mosaicism, FISH}, title = {Evaluation of chromosomal mosaicism by aCGH and MLPA: molecular characterization of mosaic ring chromosome 22}, keyword = {array CGH, MLPA, ring chromosome 22, mosaicism, FISH}, publisher = {European Surveillance of Congenital Anomalies Association}, publisherplace = {Zagreb, Hrvatska} }




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