Abstract
Materials and Methods Segmental aneuploidy or alteration involving #11q arm was detected in 2 cases during conventional cytogenetic analysis carried out in children having multiple congenital anomalies (MCA). Chromosome preparations were obtained from PHA stimulated lymphocyte cultures according to the standard procedure at 500-band level in both patient and their parents. Evaluation of the break point region was performed by 60K oligonucleotide arrayComparative Genomic Hybridization (aCGH) using Agilent platform. Female genomic DNA (Promega Corporation, Madison, WI, USA) was used as a sex-matched reference, which was analyzed with the aCGH analysis software v3.4 (Agilent Technologies Inc., Santa Clara, CA, USA) by applying Z-score segmentation algorithm with a window size of 10 points to identify chromosome aberrations.
Highlights
The terminal 11q deletion syndrome known as Jacobsen syndrome (JS) is a rare genetic disorder associated with multiple dysmorphic features and occurs in 1 in 100,000 live births
Materials and Methods Segmental aneuploidy or alteration involving #11q arm was detected in 2 cases during conventional cytogenetic analysis carried out in children having multiple congenital anomalies (MCA)
Evaluation of the break point region was performed by 60K oligonucleotide arrayComparative Genomic Hybridization using Agilent platform
Summary
Manisha Desai1*, Bhumi Patel, Chaitanya Datar, Anand Pandit, Prakash Ghambhir, Darshana Nayak, Jayesh Sheth, Frenny Sheth. From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. 23-25 January 2013
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
