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. 2010 May 14;86(5):789–796. doi: 10.1016/j.ajhg.2010.04.002

Figure 1.

Figure 1

Clinical Presentation and Molecular Findings of Family 1

Pedigree of Family 1

(A–F) Identical facial appearance and caudal appendage in affected siblings.

(G–H) Brachycephaly, bilateral extreme microphtalmia, and a large midline bone defect of the cranium.

(I) Schematic representation of homozygosity data of the chromosome 12q21.3 region. Genotype files (CHP files) were generated with Affymetrix GTYPE software and were transferred to the VIGENOS (Visual Genome Studio) program (Hemosoft, Ankara), which facilitates visualization of a large amount of genome data in comprehensible visual screens.15 Homozygous genotypes identical to the genotype data obtained from the index case (affected individual P1, family 1) are shown in blue. Contrasting homozygote genotypes are shown in white, whereas heterozygous SNPs appear in orange. Noninformativeness as a result of heterozygous genotypes in parent-child trios is indicated in yellow. Gray: no call; F: father; M: mother; P1-3: patients 1–3. The overlapping homozygous stretches of three patients are approximately 27 Mb in size. The Mendelian segregation error spanned a 3.7 Mb region (between 81.924.095 and 85.661.618 bases) and is marked in brackets.

(J) Diagrams obtained with CNAG software (blue and red arrows show single- and double-copy deletions observed in parents and affected siblings, respectively).

(K) Results of array-CGH analysis of chromosome 12 obtained from the Agilent Platform (Agilent Technologies, Santa Clara, CA, USA). The raw data (tiff images) were extracted with Feature Extraction software v.10.5.1.1. (Agilent Technologies, Santa Clara, CA, USA) and were analyzed with CGH Analytics software v.3.5.14 (Agilent Technologies, Santa Clara, CA, USA). In the chromosome view the region of interest showing a copy-number change on 12q21.31 is indicated above the ideogram by a black rectangle. The observed deletion spanning 81.9–85.6 Mb is marked by the blue block. Seven genes (TMTC2, SLC6A15, LRRIQ1, CART1 (= ALX1), PAMCI, NTS, and MGAT4C) are located within this 3.7 Mb region.