Rare chromosome disorders and their developmental consequences

Gilmore, Linda (2009) Rare chromosome disorders and their developmental consequences. Intellectual Disability Australasia, 30(4), pp. 3-7.

With full references (PDF 100kB)
Submitted Version.


Professionals working in disability services often encounter clients who have chromosome disorders such as Williams, Angelman or Down syndromes. As chromosome testing becomes increasingly sophisticated, however, more people are being diagnosed with very rare chromosome disorders that are identified not by a syndrome name, but rather by a description of the number, size and shape of their chromosomes (called the karyotype) or by a report of chromosome losses and gains detected through an advanced process known as microarray-based comparative genomic hybridisation (array CGH). For practitioners who work with individuals with rare chromosome disorders and their families, a basic level of knowledge about the evolving field of genetics, as well as specific knowledge about chromosome abnormalities, is essential since they must be able to demonstrate their knowledge and skills to clients (Simic & Turk, 2004). In addition, knowledge about the developmental consequences of various rare chromosome disorders is important for guiding prognoses, expectations, decisions and interventions. The current article provides information that aims to help practitioners work more effectively with this population. It begins by presenting essential information about chromosomes and their numerical and structural abnormalities and then considers the developmental consequences of rare chromosome disorders through a critical review of relevant literature.

Impact and interest:

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

Full-text downloads:

3,984 since deposited on 14 Jan 2010
299 in the past twelve months

Full-text downloads displays the total number of times this work’s files (e.g., a PDF) have been downloaded from QUT ePrints as well as the number of downloads in the previous 365 days. The count includes downloads for all files if a work has more than one.

ID Code: 29424
Item Type: Journal Article
Refereed: No
ISSN: 1446-9987
Divisions: Current > Research Centres > Office of Education Research
Current > Schools > School of Cultural & Professional Learning
Current > QUT Faculties and Divisions > Faculty of Education
Copyright Owner: Copyright 2009 please contact the author
Deposited On: 14 Jan 2010 05:53
Last Modified: 25 Aug 2014 00:34

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page