Rare chromosome disorders and their developmental consequences


Autoria(s): Gilmore, Linda
Data(s)

2009

Resumo

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.

Formato

application/pdf

Identificador

http://eprints.qut.edu.au/29424/

Publicador

Australasian Society for the Study of Intellectual Disability

Relação

http://eprints.qut.edu.au/29424/3/29424.pdf

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

Direitos

Copyright 2009 please contact the author

Fonte

Office of Education Research; School of Cultural & Professional Learning; Faculty of Education

Tipo

Journal Article