Regions of homozygosity (ROH) derived from the proband in the SNP array.

<p>(<b>A</b>) The cytogenetic location, genomic coordinates (hg19) and sizes of each ROH. (<b>B</b>) Location and size (in Mb) of each ROH on chromosomes 3, 4, 9 and 11.</p

Identification of the 649 bp deletion in the proband.

<p>(<b>A</b>) PCR genotyping of the 649 bp deletion in a normal control (NC), mother (M), father (F) and proband (P). Size markers (M) consist of a 500 bp ladder. The sizes of the amplicons representing the normal (1073 bp) and mutant (424 bp) alleles are indicated next to the gel. (<b>B</b>) Sanger DNA sequencing electropherogram of the mutant amplicon, showing the deletion breakpoint (indicated by the arrow). (<b>C</b>) Representative DNA sequence of the 1073 bp amplicon extending from the forward and reverse primer (shown in red color). The strikethrough bases indicate the deleted DNA sequences and those of exon 2 are highlighted.</p

Tertiary structure modeling of the mutant HGD protein.

<p>(<b>A</b>) Crystal structure of the normal and (<b>B</b>) tertiary structure model of the mutant HGD protein α-helical coils, β-pleated sheets and interconnecting loops are colored in turquoise, magenta and pink, respectively. In (A), exon 2 is represented by the two yellow anti-parallel β-pleated sheets and green interconnecting loops. The adjoining four amino acids from exons 1 and 3 are shown in blue. Note in (B), the absence of exon 2 β-pleated sheets and loops and the presence of a novel loop (shown in blue) that represents 4 amino acids from each of exons 1 and 3. Despite the similarities of the β-sheets between the two structures, most of the amino acids in the α-helical coils are different from the native structure. This figure does not contain any copyrighted image.</p

Amino acid sequences of α-helical coils and β-pleated sheets in the normal and mutant HGD proteins are listed from their amino to carboxy termini.

<p>Note that all the coils in the predicted protein are different whereas only some β-pleated sheets are missing. The two pleated sheets spanned by exon 2 are denoted as deleted from the mutant protein.</p><p>Amino acid sequences of α-helical coils and β-pleated sheets in the normal and mutant HGD proteins are listed from their amino to carboxy termini.</p

Additional file 2: Table S1. of Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

List of the cases with small (<1 Mb) pathogenic copy number loss on chromosome 9 without involvement of other chromosomes (N = 57). Table S2. List of the remaining cases with copy number loss on chromosome 9 (N = 47). Table S3. Interpretation, references and ClinGen evaluation of haploinsufficiency score of selected cytogenetically relevant genes on chromosome 9. (DOCX 43 kb

Perancangan Interior Cafe Salon Di Malang

Malang City has good prospect in the culinary fields such as cafes and salon, because the consumptive lifestyle as become a trend in Malang City. Cafe is often used as a place to gather and meet the culinary needs, while salon is often used as a place to let saturation off and body pampering. These perspectives brings Malang into a need of a space to fulfill consumer consumptive pattern and to release saturation in Malang City. This design uses the concept of "Care and Relax". The aim of this concept is to create a space needed by the people which is a place that provides comfortable, serene and relax interior for the people inside. This concept also functions to give warm athmosphere. The application of care in the design is by proximity, protection, openess, and attention while the application of relax in the design is by calmness, roomy and light

Ideogram for chromosome 22 from a patient with a fetal microdeletion in the DiGeorge region.

<p>Ideogram for chromosome 22 from a patient with a fetal microdeletion in the DiGeorge region.</p

Relationship of fetal fraction estimated using a median of X and Y based methods with the fetal fraction estimated from a model of autosomal read counts among 1366 male samples that were not included in the development of the autosomal model.

<p>Pearson correlation coefficient (r) = 0.81.</p

Follow-up of Clinical Samples Positive for Fetal Aneuploidies on Non-invasive Prenatal Screening

<p>Follow-up of Clinical Samples Positive for Fetal Aneuploidies on Non-invasive Prenatal Screening</p

Positive Predictive Values for Noninvasive Prenatal Screening Performed at Third-party Laboratories

<p>Positive Predictive Values for Noninvasive Prenatal Screening Performed at Third-party Laboratories</p