Просмотр исходного текста страницы One particular Benefit Of PTPRJ

This analysis was performed based on standard procedures within that laboratory, based on published methods [Bainbridge et al., 2011] and information at the Baylor Human Genome Sequencing Center: https://hgsc.bcm.edu/sites/default/files/documents/Illumina_Barcoded_Paired-End_Capture_Library_Preparation.pdf and analyzed by their clinical testing pipeline: https://github.com/dsexton2/Mercury-Pipeline. Following clinical evaluation, a tentative diagnosis of TARP syndrome was made in this child and samples on the patient and his unaffected mother were sent to NHGRI for Sanger sequencing of RBM10, which was performed as described [Gripp et al., 2011]. For all mutations, nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according [http://www.selleckchem.com/products/crenolanib-cp-868596.html CP-868596 in vivo] to the conventions specified [https://en.wikipedia.org/wiki/PTPRJ PTPRJ] by the Human Genome Variation Society. The initiation codon is codon 1. This child was the product of a 38-week gestation to a 33-year-old primigravida Asian mother and Caucasian father. The parents had a negative family history and the mother had eight healthy brothers. A first trimester choroid plexus cyst was detected that resolved in the third trimester. Prenatal echocardiography showed atrial enlargement with pericardial effusion and there was a possible tricuspid valve abnormality. By the mother's report, prenatal ultrasound at 27 weeks at an outside facility showed a possible Dandy�CWalker malformation. Amniocentesis showed a 46,XY karyotype. His birth weight (BW) was 2,162?g (just [http://www.selleckchem.com/products/Lapatinib-Ditosylate.html GW-572016 in vivo] His limbs were notable for a unilateral single transverse palmar crease, mild 2�C3 cutaneous toe syndactyly and unilateral postaxial toe polydactyly. A sacral dimple was present. He did not have talipes equinovarus. Cranial MRI at 9 days of age showed small frontal hemispheres and frontal horns with a cortical pattern that was mildly immature for age. The corpus callosum was thin, with an absent rostrum, small genu and body, and a very small splenium. The septum pellucidum was absent. There was an unusually large cystic space, probably perivascular cystic spaces in the right caudal basal ganglia. He had a moderately small cerebellar vermis and left hemisphere, mildly small right cerebellar hemisphere, and mildly enlarged posterior fossa consistent with mega-cisterna magna (Fig. 1A�CC).