European Journal of Human Genetics

TABLE 1

FROM:

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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Table 1. CGH analysis performed blinded and semiblinded

CGH analysis by ULS® labeling and Quips software CGH analysis by nick translation and HR-CGH software
Semiblinded Completely blinded Semiblinded Completely blinded
Case Abnormality Case Abnormality Case Abnormality Case Abnormality
1Monosomy 7q11Deletion 10q2511Deletion 10q251Monosomy 7q
 Trisomy 10q12Deletion 4p12Deletion 4p Trisomy 10q
2Monosomy 18p13Deletion 15q11–q1313Deletion 15q11–q132Monosomy 18p
 Trisomy 13q14monosomy 9q14Monosomy 9q Trisomy 13q
3Monosomy 21q Trisomy 22q Trisomy 22q3Monosomy 21q
 Trisomy 9q15Deletion 1p15Deletion 1p Trisomy 9q
4Trisomy 17q16Monosomy 13q16Monosomy 13q4Trisomy 17q
 Monosomy 12q Trisomy 5q Trisomy 5q Monosomy 12q
5Monosomy 4q17Monosomy 13q17Monosomy 13q5Monosomy 4q
 Trisomy 2q Trisomy 2p Trisomy 2p Trisomy 2q
6Monosomy 6q18Normal  6Monosomy 6q
 Trisomy 6p     Trisomy 6p
7deletion 15q24    7Deletion 15q24
8Deletion 6p    8Deletion 6p
9Deletion 22q11.2    9Deletion 22q11.2
10Deletion 17p11    10Deletion 17p11
      18Normal

 Cases 1–10 were obtained from the by Karolinska Hospital, while cases 11–17 were contributed by the JF Kennedy Institute.

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