Top

Published in:

01-08-2015 | Original Research

Adults with Chromosome 18 Abnormalities

Authors: Bridgette Soileau, Minire Hasi, Courtney Sebold, Annice Hill, Louise O’Donnell, Daniel E. Hale, Jannine D. Cody

Published in: Journal of Genetic Counseling | Issue 4/2015

Abstract

The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child’s future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child.

Abeliovich, D., Dagan, J., Levy, A., Steinberg, A., & Zlotogora, J. (1993). Isochromosome 18p in a mother and her child. American Journal of Medical Genetics, 46, 392–393.PubMedCrossRef

Adab, N., & Larner, A. J. (2006). Adult-onset seizure disorder in the 18q deletion syndrome. Journal of Neurology, 253, 527–528.PubMedCrossRef

Babovic-Vuksanovic, D., Jenkins, S. C., Ensenauer, R., Newman, D. C., & Jalal, S. M. (2004). Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation. American Journal of Medical Genetics. Part A, 124A, 318–322.PubMedCrossRef

Bagherizadeh, E., Behjati, F., Saberi, S. H., & Shafeghati, Y. (2011). Prenatal diagnosis of a mentally retarded woman with mosaic ring chromosome 18. Indian Journal of Human Genetics, 17(2), 111–113.PubMedCentralPubMedCrossRef

Batista, D. A. S., Vianna-Morgante, A. M., & Richieri-Costa, A. (1983). Tetrasomy 18p: tentative delineation of a syndrome. Journal of Medical Genetics, 20, 144–146.PubMedCentralPubMedCrossRef

Blennow, E., & Nielsen, K. B. (1991). Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84. Clinical Genetics, 39, 429–433.PubMedCrossRef

Buffoni, L., Tarateta, A., Aicardi, G., Vianello, M. G., & Bonioli, E. (1976). [Pituitary dwarfism and “goldenhar type = multiple deformities in a patient with deletion of the short arm of chromosome 18](article in Italian). Minerva Pediatrica, 29(12–3), 716–729.

Bugge, M., Blennow, E., Friedrich, U., Petersen, M. B., Pedeutour, F., Tsezou, A., et al. (1996). Tetrasomy 18p de novo: parental origin and different mechanisms of formation. European Journal of Human Genetics, 4(3), 160–167.PubMed

Callen, D. F., Freemantle, C. J., Ringenbergs, M. L., Baker, E., Eyre, H. J., Romain, D., et al. (1990). The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. American Journal of Human Genetics, 47, 493–498.PubMedCentralPubMed

Christensen, K. R., Friedrich, U., Jacobsen, P., Jensen, K., Nielsen, J., & Tsuboi, T. (1970). Ring chromosome 18 in mother and daughter. Journal of Mental Deficiency Research, 14, 49.PubMed

Chudley, A. E., Kovnats, S., & Ray, M. (1992). Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases. American Journal of Medical Genetics, 43, 535–538.PubMedCrossRef

Cody, J. D., Heard, P., Crandall, A. C., Carter, E. M., Li, J., Hardies, L. J., et al. (2009). Narrowing critical regions and determining penetrance for selected 18q- phenotypes. American Journal of Medical Genetics. Part A, 149A, 1421–1430.PubMedCrossRef

Cohen, M. M., Storm, D. F., & Capraro, V. J. (1972). A ring chromosome (no. 18) in a cyclops. Clinical Genetics, 3, 249–252.PubMedCrossRef

De Grouchy, J., Royer, P., Salmon, C., & Lamy, M. (1964). Partial deletion of the long arms of the chromosome 18. Pathologie Biologie (Paris), 12, 579–582.

de Ravel, T. J. L., Thiry, P., & Fryns, J. P. (2005). Follow-up of adult males with chromosome 18p deletion. European Journal of Medical Genetics, 48, 189–193.PubMedCrossRef

Faed, M. J. W., Whyte, R., Paterson, C. R., McCathie, M., & Robertson, J. (1972). Deletion of the long arms of chromosome 18 (46, XX,18q-) associated with absence of IgA and hypothyroidism in an adult. Journal of Medical Genetics, 9, 102–105.PubMedCentralPubMedCrossRef

Faust, J., Habedank, M., & Nieuwenhuijsen, C. (1976). The 18p- syndrome: report of 4 cases. European Journal of Pediatrics, 123(1), 59–66.PubMedCrossRef

Felding, I., Kristoffersson, U., Sjostrom, H., & Noren, O. (1987). Contribution to the 18q- syndrome. A patient with del(18)(q22.3qter). Clinical Genetics, 31, 206–210.PubMedCrossRef

Fryns, J. P., & Kleczkowska, A. (1992). Autism and ring chromosome 18 mosaicism. Clinical Genetics, 42, 55.PubMedCrossRef

Fryns, J. P., Logghe, N., van Eygen, M., & van den Berghe, H. (1979). 18q- syndrome in mother and daughter. European Journal of Pediatrics, 130, 189–192.PubMedCrossRef

Fryns, J. P., Kleczkowska, A., Smeets, E., & Van Den Berghe, H. (1992). Transmission of ring chromosome 18 46, XX/46, XX, r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son. Annual Review of Genetics, 35(2), 121–123.

Gordon, M. F., Bressman, S., Brin, M. F., de Leon, D., Warburton, D., Yeboa, K., et al. (1995). Dystonia in a patient with deletion of 18q. Movement Disorders, 10(4), 496–499.PubMedCrossRef

Harris, C. J., Israel, J. N., & Okada, L. E. (1983). 18p- syndrome: an unusual etiology for familial delayed development with mild dysmorphia. Journal of Human Genetics, 35, 94A.

Heard, P. L., Carter, E. M., Crandall, A. C., Sebold, C., Hale, D. E., & Cody, J. D. (2009). High resolution genomic analysis of 18q– using oligo-microarray comparative genomic hybridization (aCGH). American Journal of Medical Genetics. Part A, 149A, 1431–1437.PubMedCentralPubMedCrossRef

Jacobsen, P., & Mikkelsen, M. (1968). The 18p- syndrome. Report of 2 cases. Annual Review of Genetics, 11(4), 211–216.

Jones, K. L. (1997). Smith’s recognizable patterns of human malformation (5th ed.). Philadelphia: W.B. Saunders Company.

Kato, Z., Morimoto, W., Kimura, T., Matsushima, A., & Kondo, N. (2010). Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX, del(18)(q21.2q21.33). Birth Defects Research. Part A, Clinical and Molecular Teratology, 88, 132–135.PubMed

Keppler-Noreuil, K. M., Carroll, A. J., Finley, S. C., Descartes, M., Cody, J. D., DuPont, B. R., et al. (1998). Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss. American Journal of Medical Genetics, 76, 372–378.PubMedCrossRef

Kleczkowska, A., Fryns, J. P., Buttiens, M., De Bisschop, F., Emmery, L., & Van Den Berghe, H. (1986). Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation. Clinical Genetics, 30, 503–508.PubMedCrossRef

Kotzot, D., Bundscherer, G., Bernasconi, F., Brecevic, L., Lurie, I. W., Basaran, S., et al. (1996). Isochromosome 18p results from maternal meiosis II nondisjunction. European Journal of Human Genetics, 4, 168–174.PubMed

Law, E. M., & Masterson, J. G. (1969). Familial 18q- syndrome. Annual Review of Genetics, 12(4), 215–222.

Linnankivi, T., Tienari, P., Somer, M., Kahkonen, M., Lonnqvist, T., Valanne, L., et al. (2006). 18q- deletions: clinical, molecular, and brain MRI findings of 14 individuals. American Journal of Medical Genetics. Part A, 140A, 311–339.CrossRef

Maaswinkel-Mooij, P. D., de Jong, P., & Beverstock, G. C. (1993). 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome. Clinical Genetics, 43, 76–78.PubMedCrossRef

Mahr, R. N., Moberg, P. J., Overhauser, J., Strathdee, G., Kamholz, J., Loevner, L. A., et al. (1996). Neuropsychiatry of 18q- syndrome. American Journal of Medical Genetics, 67, 172–178.PubMedCrossRef

Maranda, B., Lemieux, N., & Lemyre, E. (2006). Familial deletion 18p syndrome: case report. BMC Medical Genetics, 7, 60.PubMedCentralPubMedCrossRef

Margarit, E., Morales, C., Rodriguez-Revenga, L., Monne, R., Badenas, C., Soler, A., et al. (2012). Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability. American Journal of Medical Genetics. Part A, 158A(3), 611–616.PubMedCrossRef

Mikelsaar, R. V., Kulla, A., & Suvari, A. (2002). Psoriasis vulgaris in a male with partial deletion 18p. American Journal of Medical Genetics, 108, 252–253.PubMedCrossRef

Miller, G., Mowrey, P. N., Hopper, K. D., Frankel, C. A., & Ladda, R. L. (1990). Neurologic manifestations in 18q- syndrome. American Journal of Medical Genetics, 37, 138–132.CrossRef

Moedjono, S. J., Funderburk, S. J., & Sparkes, R. S. (1979). 18p- syndrome resulting from translocation (13q;18q) in a mildly affected adult male. Journal of Medical Genetics, 16, 399–402.PubMedCentralPubMedCrossRef

Netzer, C., Helmstaedter, C., Ehrbrecht, A., Engels, H., Schwanitz, G., Urbach, H., et al. (2006). Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion. Acta Neurologica Scandinavica, 114, 133–138.PubMedCrossRef

Nielsen, K. B., Dyggve, H., Friedrich, U., Hobolth, N., Lyngbye, T., & Mikkelsen, M. (1978). Small metacentric nonsatellited extra chromosome: report of five memtally retarded individuals and review of literature. Human Genetics, 44, 59–69.PubMedCrossRef

Nitowsky, H. M., Sindhvananda, N., Konigsberg, U. R., & Weinberg, T. (1966). Partial 18 monosomy in the cyclops malformation. Pediatrics, 37(2), 260–269.PubMed

Portnoi, M. F., Gruchy, N., Marlin, S., Finkel, L., Denoyelle, F., Dubourg, C., et al. (2007). Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clinical Dysmorphology, 16, 247–252.PubMedCrossRef

Postma, A. G., Verschuuren-Bemelmans, C. C., Kok, K., & van Laar, T. (2009). Characteristics of dystonia in the 18p deletion syndrome, including a new case. Clinical Neurology and Neurosurgery, 111, 880–882.PubMedCrossRef

Reynolds, C. R., & Kamphaus, R. W. (2004). Behavior assessment system for children (2nd ed.). Circle Pines: AGS Publishing.

Rigola, M. A., Plaja, A., Mediano, C., Miro, R., Egozeue, J., & Fuster, C. (2001). Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis. American Journal of Medical Genetics, 104, 37–41.PubMedCrossRef

Roth, R. M., Isquith, P. K., & Gioia, G. A. (2005). Behavior rating inventory of executive function –adult version. Lutz: Psychological Assessment Resources, Inc.

Ruvalcaba, R. H. A. (1970). Deletion of chromosome group E and thyroid autoimmunity. Journal of Pediatrics, 77, 343–344.CrossRef

Schaub, R. L., Reveles, X. T., Baillargeon, J. G., Leach, R. J., & Cody, J. D. (2002). Molecular characterization of 18p deletions: identification of a breakpoint cluster. Genetics in Medicine, 4, 15–19.PubMedCrossRef

Sebold, C., Roeder, E., Zimmerman, M., Soileau, B., Heard, P., Carter, E., et al. (2010). Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. American Journal of Medical Genetics. Part A, 152A, 2164–2172.PubMedCrossRef

Singer, T. S., Kohn, G., & Yatziv, S. (1990). Tetrasomy 18p in a child with trisomy 18 phenotype. American Journal of Medical Genetics, 36, 144–147.PubMedCrossRef

Subrt, I., & Pokorny, J. (1970). Familial occurrence of 18q-. Humangenetik, 10, 181–187.PubMed

Swingle, H. M., Ringdahl, J., Mraz, R., Patil, S., & Keppler-Noreuil, K. (2006). Behavioral management of a long-term survivor with tetrasomy 18p. American Journal of Medical Genetics. Part A, 140A, 276–280.CrossRef

Tezzon, F., Zanoni, T., Passarin, M. G., & Ferrari, G. (1998). Dystonia in a patient with deletion of 18p. The Italian Journal of Neurological Sciences, 19, 90–93.PubMedCrossRef

Tinkle, B. T., Christianson, C. A., Schorry, E. K., Webb, T., & Hopkin, R. J. (2003). Long-term survival in a patient with del(18)(q12.2q21.1). American Journal of Medical Genetics. Part A, 119A, 68–70.

Tonk, V., & Krishna, J. (1997). Case report: de novo inherited 18p deletion in a mother–fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis. European Journal of Obstetrics and Gynecology and Reproductive Biology, 73, 193–196.PubMedCrossRef

Tsukahara, M., Imaizumi, K., Fujita, K., Tateishi, H., & Uchida, M. (2001). Familial del(18p) syndrome. American Journal of Medical Genetics, 99, 67–69.PubMedCrossRef

Uchida, I. A., McRae, K. N., Wang, H. C., & Ray, M. (1965). Familial short arm deficiency of chromosome 18 concomitant with arinencephaly and alopecia congenital. American Journal of Human Genetics, 17(5), 410–419.PubMedCentralPubMed

Velagaleti, G. V. N., Harris, S., Carpenter, N. J., Coldwell, J., & Say, B. (1996). Familial deletion of chromosome 18 (p11.2). Annual Review of Genetics, 39(4), 201–204.

Vogel, H., Urich, H., Horoupian, D., & Wertelecki, W. (1990). The brain in the 18q- syndrome. Developmental Medicine and Child Neurology, 32(8), 732–737.PubMedCrossRef

Warburg, M., Sjo, O., Tranebjaerg, L., & Fledelius, H. C. (1991). Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. American Journal of Medical Genetics, 39, 288–293.PubMedCrossRef

Watanabe, R. L., Gardner, L. I., & Galvis, A. G. (1971). A single nasal orifice and severe intrauterine growth retardation in a case of 46, XX,18r. Annual Review of Genetics, 14, 139–142.

Weiss, B. J., Kamholz, J., Ritter, A., Zackai, E. H., McDonald-McGinn, D. M., Emanuel, B., et al. (1991). Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18 deletion. Annals of Neurology, 30, 419–423.PubMedCrossRef

Wester, U., Bondeson, M. L., Edeby, C., & Anneren, G. (2006). Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. American Journal of Medical Genetics. Part A, 140A, 1164–1171.CrossRef

Wilson, M. G., Towner, J. W., Forsman, I., & Siris, E. (1979). Syndromes associated with deletion of the long arm of chromosome 18(del(18q)). American Journal of Medical Genetics, 3, 155–174.PubMedCrossRef

Yanoff, M., Rorke, L. B., & Niederer, B. S. (1970). Ocular and cerebral abnormalities in chromosome 18 deletion defect. American Journal of Ophthalmology, 70(3), 391–402.PubMedCrossRef

Yardin, C., Esclaire, F., Terro, F., Baclet, M. C., Barthe, D., & Laroche, C. (2001). First familial case of ring chromosome 18 and monosomy 18 mosaicism. American Journal of Medical Genetics, 104, 257–259.PubMedCrossRef

Title: Adults with Chromosome 18 Abnormalities
Authors: Bridgette Soileau
Minire Hasi
Courtney Sebold
Annice Hill
Louise O’Donnell
Daniel E. Hale
Jannine D. Cody
Publication date: 01-08-2015
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 4/2015
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-014-9793-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Adults with Chromosome 18 Abnormalities

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2015

Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals

Health-Related Quality of Life in Patients with MPS II

Perceptions and Attitudes About Genetic Counseling Among Residents of a Midwestern Rural Area

Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias: An Obligation or a Choice?

Genetic Counseling in Portugal: Education, Practice and a Developing Profession

Reduced Uptake of Family Screening in Genotype-Negative Versus Genotype-Positive Long QT Syndrome