3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome Lionel Willatt, James Cox, John Barber, Elisabet Dachs Cabanas,

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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome Lionel Willatt, James Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David R. FitzPatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Shaw-Smith, Erik A. Sistermans, Michael Tettenborn, Dorothy Trump, Bert B.A. de Vries, Kate Walker, F. Lucy Raymond The American Journal of Human Genetics Volume 77, Issue 1, Pages 154-160 (July 2005) DOI: 10.1086/431653 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 1 Photographs of patient 1, at age 9 years, 11 mo; patient 2, at age 14 years; patient 3, at age 6 years, 7 mo; patient 4, at age 6 years; patient 5, at age 7 years, 11 mo; and patient 6, at age 8 years, 10 mo. Written consent to publish these photographs was obtained from the parents of each child. The American Journal of Human Genetics 2005 77, 154-160DOI: (10.1086/431653) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Genomic map of chromosome 3q, showing which clones are present (blackened) and which clones are deleted (unblackened). All six patients have deletions of BAC clones RP11-252K11–RP11-535N19 (see text). The MLPA probe, which can be used to detect the deletions in all six patients, is located within the BDH gene within BAC clones RP13-616I3 and RP11-535N19. The commercially available FISH probes—Vysis 3qter probe pVYS223B (D3S3560), Cytocell 3qtel106, and CTC-196F4—are all located within BAC clone RP5-1061C18. Unless otherwise stated, the BAC or PAC clones used were from the RP11 library. Contig NT_029928 and the size of the BAC clones within it are approximately to scale. The three contigs, GenBank NT_029928 (2.6 Mb), GenBank NT_005535 (1.2 Mb), and GenBank NT_005612 (100 Mb), are separated by gaps of unknown length in the sequence. B, The detailed positioning of BAC clones at the proximal and distal breakpoints. The relative position of each BAC clone was determined by identifying the presence or absence of known STS markers within the BAC clones and the genomic sequence around the deletion boundaries. C, LCR sequences in the deletion breakpoint genomic region. The region-specific LCRs designated “A” and “B” are shown (see text). The arrows above the bar show the orientation of the repeats; the position of the repeats on chromosome 3 are given below the bar. From left to right on the diagram, the repeat sizes are 15 kb, 5 kb, 11 kb, 19 kb, 19 kb, and 11 kb. The BAC clones that contain the LCRs are marked below the genomic location. The diagram is not to scale. The American Journal of Human Genetics 2005 77, 154-160DOI: (10.1086/431653) Copyright © 2005 The American Society of Human Genetics Terms and Conditions