%0 Journal Article
%T Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet¨CBiedl Syndrome 9 (BBS9) deletion
%A Arvind Babu
%A Ethylin Wang Jabs
%A Jennifer Reiner
%A Laura Pisani
%A Lisa Edelmann
%A Lisong Shi
%A Ninette Cohen
%A Ram Singh
%A Robert Sebra
%A Stuart A. Scott
%A Wahab A. Khan
%A Wanqiong Qiao
%A Yao Yang
%J Archive of "NPJ Genomic Medicine".
%D 2018
%R 10.1038/s41525-017-0042-3
%X Clinical and genetic diagnosis of Bardet¨CBiedl syndrome. Clinical evaluation of a 14-month-old proband revealed features suggestive of BBS, including low-set ears and a right ear pit (arrow) (a), and postaxial polydactyly on the right foot (arrow) (b). Analysis of the patient specimen on the Agilent 4£¿¡Á£¿180 CGH£¿+£¿SNP array (c, left panel) detected a single region of homozygosity at chromosome 7p14.2¨Cp21.1. A homozygous deletion (indicated by an asterisk) of the 5¡ä region of BBS9 was nested within the region of homozygosity at 7p14.3. Analysis of the proband DNA with the higher-resolution Affymetrix CytoScan HD array (c, right panel) confirmed these results and further refined the deletion breakpoint
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778042/