Two cases of the caudal duplication anomaly including a discordant monozygotic twin
| Autor: | Robert M.W. Hofstra, Jall Baert, Meiko Takahashi, RJ Zijlstra, Hester Y. Kroes, van Ton Essen, Krista Kooi |
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| Rok vydání: | 2002 |
| Předmět: |
Colon
Urinary Bladder Uterus AXIN1 Monozygotic twin Cervix Uteri Biology polytopic developmental field defect Germline mutation Axin Protein Gene duplication medicine Humans Abnormalities Multiple Child Gene Cervix AXIN1 gene Genetics (clinical) Urinary bladder Lumbar Vertebrae double colon Infant Proteins Anatomy BLADDER DEFECTS Genitalia Female Twins Monozygotic spina bifida Repressor Proteins medicine.anatomical_structure duplication disorganisation Urogenital Abnormalities Vagina Female Ureter PRIMARY DEVELOPMENTAL FIELD |
| Zdroj: | American Journal of Medical Genetics, 112(4), 390-393. WILEY-LISS |
| ISSN: | 0148-7299 1048-1052 |
| Popis: | We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication of the colon, bladder, vagina and uterus. The first patient had an unaffected monozygotic twin sister. Dominguez et al. [ 1993: Am J Dis Child 147:1048-1052] presented six similar cases, and introduced the name "caudal duplication syndrome." The pathogenesis of the caudal duplication anomaly is unclear. The possibility of a polytopic primary developmental field defect or a disruptive sequence are discussed. On the other hand, somatic or germline mutations in certain developmental genes could be involved, as illustrated by the mouse mutations disorganisation and fused. DNA-analysis of the AXIN1 gene, the human homologue of the gene responsible for fused, performed in our first patient, did not show any apparent pathogenic mutation. (C) 2002 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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