Chromosome 18q22.2→qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects | Macquarie University ResearchOnline

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Title: Chromosome 18q22.2→qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects
Related: Journal of medical genetics, Vol. 34, Issue 5, (1997), p.414-417
DOI: 10.1136/jmg.34.5.414
Publisher: BMJ Publishing Group
Date: 1997
Author/Creator: Dowton, S. Bruce
Author/Creator: Hing, Anne V
Author/Creator: Sheen-Kaniecki, Vida
Author/Creator: Watson, Michael S
Description: Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2→qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defects with 18q- in this patient suggests the possibility that a gene important for somite formation or vertebral differentiation maps to this segment of chromosome 18.
Description: 4 page(s)
Subject Keyword: Congenital anomaly syndrome
Subject Keyword: Deletion 18q22.2→qter
Subject Keyword: Multiple vertebral segmentation defects
Resource Type: journal article
Organisation: Macquarie University. Office of the Vice-Chancellor

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