Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
case_report · Level V
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- Record sourced from PubMed, PMID 9507400.
- Also identified by PMC identifier 1051225.
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Abstract
Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.
Medical subject headings
- Beckwith-Wiedemann Syndrome
- Chromosome Deletion
- Chromosomes, Human, Pair 18
- Insulin-Like Growth Factor II