Summary
A 12-month-old female infant with developmental delay, growth retardation, and dysmorphic features including dolichocephaly, telecanthus, ptosis, flat nasal bridge, anteverted nares, high-arched palate, carp-shaped mouth, micro-retrognathia, and low-set and posteriorly rotated ears was found to have an interstitial deletion of chromosome 11 involving bands q14–q22. Immunoblot analysis of her fibroblasts revealed a normal amount of mitochondrial acetoacetyl-coenzyme A thiolase, of which gene locus has been assigned to chromosome 11q22.3–q23.1. This result suggested that the region around the boundary of 11q22.3–q23.1 was intact in this patient.
Similar content being viewed by others
Article PDF
References
Bateman JB, Maumenee IH, Sparkes RS (1984): Peters' anomaly associated with partial deletion of the long arm of chromosome 11. Am J Ophthalmol97: 11–15
Carnevale A, Blanco B, Grether P, Castillejos AR (1987): Interstitial deletion of the long arm of chromosome 11 Ann Génét30: 56–58
Fryns JP, Kleczkowska A, Buttiens M, Marien P, Berghe H (1986): Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. Clin Genet30: 255–260
Fukao, T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T (1991): Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. Biochem Biophys Res Commun179: 124–129
Helmuth RA, Weaver DD, Wills ER (1989): Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. Am J Med Genet32: 178–181
Ikeuchi T (1984): Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high resolution chromosome banding. Cytogenet Cell Genet38: 56–61
Jacobsen P, Hauge M, Henningsen K, Hobolt N, Mikkelsen M, Philip J (1973): An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. Hum Hered23: 568–585
Klep-de Pater JM, France HF, Bijlsma JB (1985): Interstitial deletion of the long arm of chromosome 11. J Med Genet22: 224–226
Masuno M, Kano M, Fukao T, Yamaguchi S, Osumi T, Hashimoto T, Takahashi E, Hori T, Orii T (1992): Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A gene to band 11q22.3→q23.1 by fluorescencein situ hybridization. Cytogenet Cell Genet60: 121–122
McConville CM, Formstone CJ, Hernandez D, Thick J, Taylor ARM (1990): Fine mapping of the chromosome 11q23–23 region using PFGE, linkage and haplotype analysis; localization of the gene for ataxia telangiectasia to a 5cM region flanked by NCAM/DRD2 and STMY/CJ52.75, ø22.2. Nucleic Acids Res18: 4335–4343
McPherson E, Meissner L (1982): 11q— syndrome: review and report of two cases. Birth Defects18: 295–300
Misra BC, Srivatsan ES (1989): Localization of HeLa cell tumor-suppressor gene to the long arm of chromosome 11. Am J Hum Genet45: 565–577
Okamura T, Sagehashi N, Tsukagoshi T (1988) 11q— syndrome with cleft palate J Jpn PRS8: 353–358 (in Japanese with abstract in English)
Sørensen K, Nielsen J, Holm V, Haahr J (1979): Fragile site long arm chromosome 16. Hum Genet48: 131–134
Taillemite JL, Baheux-Morlier G, Roux Ch(1975): Délétion interstitielle du bras long d'un chromosome 11. Ann Génét18: 61–63
Taki H, Kusuda S, Ohsasa Y, Hase Y, Tsuruhara T, Yoshimura A (1983): A case report of partial deletion of long arm of chromosome 11; del(11)(q21q23). Jpn J Human Genet28: 179–180
Yamaguchi S, Orii T, Sakura N, Miyazawa S, Hashimoto T (1988): Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency. J Clin Invest81: 813–817
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Wakazono, A., Masuno, M., Yamaguchi, S. et al. Interstitial deletion of the long arm of chromosome 11: Report of a case and review of the literature. Jap J Human Genet 37, 229–234 (1992). https://doi.org/10.1007/BF01900717
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01900717
Key Words
This article is cited by
-
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male
Molecular Cytogenetics (2015)
-
Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review
BMC Research Notes (2014)
-
Interstitial deletion of the long arm of chromosome 11 determined by fluorescencein situ hybridization
The Japanese Journal of Human Genetics (1993)