Abstract
A patient with a partial deletion (q23 leads to qter) of the long arm of chromosome 11 presented with craniosynostosis and syndactyly. These characteristics, which have not been previously reported with 11q--, expand the phenotype of this syndrome and emphasise the need for chromosome analysis with banding techniques in multiple congenital anomaly syndromes, even if the patient could be classified as having a non-chromosomal syndrome.
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- Cassidy S. B., Heller R. M., Kilroy A. W., McKelvey W., Engel E. Trigonocephaly and the 11q- syndrome. Ann Genet. 1977 Mar;20(1):67–69. [PubMed] [Google Scholar]
- Dodson W. E., Museles M., Kennedy J. L., Jr, al-Aish M. Acrocephalosyndactylia associated with a chromosomal translocation. 46,XX, t (2p-; Cq+). Am J Dis Child. 1970 Oct;120(4):360–362. doi: 10.1001/archpedi.1970.02100090134019. [DOI] [PubMed] [Google Scholar]
- Faust J., Vogel W., Löning B. A case with 46, XX, del (11) (q21). Clin Genet. 1974;6(2):90–97. doi: 10.1111/j.1399-0004.1974.tb00637.x. [DOI] [PubMed] [Google Scholar]
- Jacobsen P., Hauge M., Henningsen K., Hobolth N., Mikkelsen M., Philip J. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered. 1973;23(6):568–585. doi: 10.1159/000152624. [DOI] [PubMed] [Google Scholar]
- Schinzel A., Auf der Maur P., Moser H. Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. J Med Genet. 1977 Dec;14(6):438–444. doi: 10.1136/jmg.14.6.438. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Taillemite J. L., Morlier B. G., Roux C. Délétion interstitielle du bras long d'un chromosome 11. Ann Genet. 1975 Mar;18(1):61–63. [PubMed] [Google Scholar]