We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.
To save content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about saving content to .
To save content items to your Kindle, first ensure coreplatform@cambridge.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Routine microscopic karyotyping is an important part of the diagnostic work-up in patients with multiple congenital anomalies (MCA) and/or intellectual disability (ID), allowing for the detection of microscopically visible chromosome aberrations. Smaller but clinically relevant deletions and duplications, however, remain unnoticed. Therefore high-resolution genome-wide technologies such as genomic microarrays are needed.
Objectives:
To improve the genotype-phenotype relationship.
Aims:
To elucidate causative copy number variations with microarray techniques.
Methods:
The implementation of microarray technologiesed as a routine diagnostic setting to detect causative copy number variations (CNV) in MCA and/or ID patients.
Results:
Patients with a chromosome aberration usually do not only display developmental delay, but can have behavioral disorders as well, like in the well-known microdeletion syndromes Velo-Cardio-Facial syndrome (22q11.2 deletion) and Smith-Magenis syndrome (17p11.2 deletion). New microdeletion and -duplication syndromes are frequently discovered with the implementation of new techniques and sometimes psychiatric problems are part of the phenotype too, including for example the 15q13.3 deletion and 16p11.2 deletion syndrome. A complicating factor in determining the phenotype however, is that these CNVs are detected as a de novo finding in children with autism spectrum disorders or schizophrenia, yet also in normal parents without a psychiatric disorder.
Conclusions:
Improvement in molecular genetic techniques has resulted in promising results, in that the chance to find a causative etiology has increased from 5% to 15–20%. Collaborative and careful genotype-phenotype studies in these rare chromosome aberrations are needed to come to a good quality definition of the phenotypic spectrum, including psychiatric disorders.
Recommend this
Email your librarian or administrator to recommend adding this to your organisation's collection.