Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
作者： Karen Buysse , Björn Menten , Ann Oostra , Sylvie Tavernier , Geert R. Mortier
DOI: 10.1002/AJMG.A.32267
关键词:
摘要: Deletions involving the long arm of chromosome 18 have been reported in many patients. Most these deletions are localized distal half (18q21.1 --> qter) and detectable by standard cytogenetic analysis. However, smaller interstitial leading to a recognizable phenotype residing region around band 18q12.3 (bands q12-q21) less common. Here we report on an deletion than 1.8 Mb within chromosomal 18q12.3. The phenotypic features propositus correspond well with those observed patients larger cytogenetically encompassing enabled us define critical for following del(18)(q12.2q21.1) syndrome: hypotonia, expressive language delay, short stature, behavioral problems.
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