17q23.1q23.2 microdeletion syndrome

What causes 17q23.2q23.2 microdeletion syndrome?

The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition.

Last updated on 05-01-20

How is 17q23.1q23.2 microdeletion syndrome diagnosed?

The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).

Last updated on 05-01-20

Is 17q23.2q23.2 microdeletion syndrome inherited?

Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family.

Last updated on 05-01-20

What is 17q23.1q23.2 microdeletion syndrome?

17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.

Last updated on 05-01-20

Selected Full-Text Journal Articles

17q23.2q23.2 microdeletion syndrome - article

Last updated on 04-27-20

Name: Chromosome Disorder Outreach CDO PO Box 724
Boca Raton, FL, 33429 , United States
Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.org/
Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom
Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/

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