Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families Tamim H. Shaikh, Marcia L. Budarf, Livija.

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Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families Tamim H. Shaikh, Marcia L. Budarf, Livija Celle, Elaine H. Zackai, Beverly S. Emanuel The American Journal of Human Genetics Volume 65, Issue 6, Pages 1595-1607 (December 1999) DOI: 10.1086/302666 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Location of t(11;22) breakpoint. Chromosomes are illustrated as thick horizontal lines with arrowheads at both ends. The orientation of the centromere (Cen) and telomere (Tel) are also indicated. The t(11;22) breakpoint is denoted by a zigzag line. STS markers used for genotype analysis are indicated by an asterisk (*). A, 22q11.2. Clones used to construct a map in the t(11;22) breakpoint region are indicated by thin lines. The location of cosmids used as FISH probes—c68a1 and c87f9—are shown as thick lines. B, 11q22-q23. FISH probe BAC 442e11 is shown as a thick line. The American Journal of Human Genetics 1999 65, 1595-1607DOI: (10.1086/302666) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 FISH analysis I. A, B, and D, Metaphase chromosomes derived from a balanced-t(11;22) carrier hybridized to different test probes—c68a1 (A), c87f9 (B), and BAC 442e11 (D). In each case, the control probe that marks the telomeric end of chromosome 22 is seen as a red signal (rhodamine), and test probes are seen as a green signal (fluorescein). Chromosomes with fluorescent signal are indicated by arrows and are labeled. C, Interphase nucleus hybridized to FISH probe BAC 442e11. Two discrete signals indicate that the clone BAC 442e11 does not contain chromosome 11–specific duplications. The American Journal of Human Genetics 1999 65, 1595-1607DOI: (10.1086/302666) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 FISH analysis II. A, Metaphase chromosomes derived from a balanced-t(11;22) carrier hybridized to test probe PAC 181g22 seen as a red signal (rhodamine). B, DAPI-counterstained image in A, inverted to gray scale. Chromosomes with fluorescent signal are indicated by arrows and are labeled. C, Interphase nucleus hybridized to FISH probe BAC 48m11 seen as multiple red signals (rhodamine), indicating chromosome 22–specific duplicated sequences. The green signal (fluorescein) is from probe c16e8, a unique chromosome 22 cosmid probe containing marker D22S66 (ph 160b), which maps between markers D22S944 and 115STS (see fig. 1A) within the 22q11.2 deletion. The American Journal of Human Genetics 1999 65, 1595-1607DOI: (10.1086/302666) Copyright © 1999 The American Society of Human Genetics Terms and Conditions