European Journal of Human Genetics

FIGURE 2

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A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size

Jacqueline Schoumans, Kate Nielsen, Iben Jeppesen, Britt-Marie Anderlid, Elisabeth Blennow, Karen Brøndum-Nielsen and Magnus Nordenskjöld

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Figure 2.

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(a) Case 16 chromosome 13: Giemsa-stained chromosomes (no abnormalities were found). CGH profile of DNA sample labeled by ULS® analyzed with the Quips software. A 3.9 Mb deletion on 13q was visible using a threshold of 1.15–0.85. CGH profile of DNA sample labeled by nick translation, analyzed on the Cytovision® using HR-CGH software. The 3.9 Mb deletion at 13q was not visible probably due to the dynamic reference interval (CI 95%) at 13q (black lines). CGH profile of DNA sample labeled by nick translation analyzed with the Quips software (slide exchange test). The 3.9 Mb deletion on 13q was detected using a threshold of 1.15–1.85. CGH profile of DNA sample labeled by ULS® analyzed on the Cytovision® using HR-CGH software (slide exchange test). The 3.9 Mb deletion on 13q was not detected using CI 95%. (b) Case 14 chromosome 9: Quinacrine-stained chromosomes, original chromosome analysis (no abnormalities were found). Giemsa-stained chromosomes (no abnormalities were found). CGH profile of DNA sample labeled by ULS® analyzed with the Quips software. A 4.1 Mb deletion on 9q was visible using a threshold of 1.15–0.85. The repetitive sequences are not completely suppressed in the heterochromatin region of chromosome 9. CGH profile of DNA sample labeled by nick translation, analyzed on the Cytovision® using HR-CGH software. The 4.1 Mb deletion on 9q was not visible since the ratio of dynamic reference interval deviated as much from normal (ratio 1.0) as the ratio of the patient sample. CGH profile of DNA sample labeled by nick translation analyzed with the Quips software (slide exchange test). The 4.1 Mb deletion on 9q was detected using a threshold of 1.15–1.85. The repetitive sequences were not completely suppressed in the heterochromatic region of chromosome 9. CGH profile of DNA sample labeled by ULS®, analyzed on the Cytovision® using HR-CGH software (slide exchange test). The 4.1 Mb deletion on 9q was not detected, incomplete suppression of the repetitive sequences was not fully corrected by the dynamic reference interval (CI 95%).

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