Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Buysse, Karen; Menten, Björn; Oostra, Ann; Tavernier, Sylvie; Mortier, Geert R.; Speleman, Frank

doi:10.1002/AJMG.A.32267

Title

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Author

Buysse, Karen

Menten, Björn

Oostra, Ann

Tavernier, Sylvie

Mortier, Geert R.

Speleman, Frank

Abstract

Deletions involving the long arm of chromosome 18 have been reported in many patients. Most of these deletions are localized in the distal half of the long arm (18q21.1 → qter) and are detectable by standard cytogenetic analysis. However, smaller interstitial deletions leading to a recognizable phenotype and residing in the region around chromosome band 18q12.3 (bands q12q21) are less common. Here we report on an interstitial deletion of less than 1.8 Mb within chromosomal band 18q12.3. The phenotypic features of the propositus correspond well with those observed in patients with larger cytogenetically detectable deletions encompassing chromosome band 18q12.3. The deletion enabled us to define a critical region for the following features of the del(18)(q12.2q21.1) syndrome: hypotonia, expressive language delay, short stature, and behavioral problems.

Language

French

Source (journal)

American journal of medical genetics : part A. - Bognor Regis, 2003, currens

Publication

Bognor Regis : 2008

ISSN

1552-4825 [print]

1552-4833 [online]

DOI

10.1002/AJMG.A.32267

Volume/pages