A 22q11.2 Deletion That Excludes UFD1L and CDC45L in a Patient with Conotruncal and Craniofacial Defects Sulagna C. Saitta, James M. McGrath, Holly Mensch,

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A 22q11.2 Deletion That Excludes UFD1L and CDC45L in a Patient with Conotruncal and Craniofacial Defects Sulagna C. Saitta, James M. McGrath, Holly Mensch, Tamim H. Shaikh, Elaine H. Zackai, Beverly S. Emanuel The American Journal of Human Genetics Volume 65, Issue 2, Pages 562-566 (August 1999) DOI: 10.1086/302514 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Photographs of patient CH98-18 at age 26 mo. Note hypertelorism, broad nose, and micrognathia. The American Journal of Human Genetics 1999 65, 562-566DOI: (10.1086/302514) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Dual-color FISH for DEP positioning in patient CH98-18. All metaphase spreads are hybridized with a control cosmid containing the distal marker D22S39. D22S39 was biotinylated and detected with avidin-FITC to identify chromosome 22 (seen at the telomeric end of chromosome 22, in all panels [green]). Most test cosmids were labeled and detected with digoxigenin-rhodamine–conjugated probes (red), except D22S801, which was biotinylated and then detected with avidin-FITC (green). In a, N25 (Oncor) is shown (red) and is present on both homologues (arrows). In b, cohybridization with two test cosmids, D22S36 (red) and D22S801 (green), shows them as overlapping signals on the normal chromosome 22 (arrow), with the control signal (D22S39) (green). Absence of the FITC test signal on the other chromosome 22 (arrowhead) indicates a deletion of D22S801. In c, cosmid 11E6 (red) is not detected on one of the chromosomes 22 (arrowhead) but is present on the normal homologue (arrow). In d, a PCR-derived probe from the distal end of cosmid 102D1 (red) is present on both chromosome 22 homologues (arrows). The 102D1 probe was generated by PCR using primers designed from sequence (for nucleotides 34424–36498) available in GenBank (accession number D86994). The PCR product was cloned by ligation into a TA cloning vector (Invitrogen), and the resultant plasmid was labeled by nick translation. B, Composite breakpoint map of 22q11.2, depicting the relative locations of several reported atypical deletions (turquoise bars). The typical deletion is also shown (lavender bar). Within the map of the TDR, genes and markers that identify the cosmids used for FISH experiments are depicted. Addresses of cosmids from the IGLL map (Kawasaki et al. 1995) that were used for FISH experiments are also shown. Individual duplicated-sequence blocks are also shown (dark blue). The IGLL locus is indicated by the bracket below the map. The cosmids from within the IGLL locus that are used for FISH are indicated on the top line over the region shaded in light red. The American Journal of Human Genetics 1999 65, 562-566DOI: (10.1086/302514) Copyright © 1999 The American Society of Human Genetics Terms and Conditions