18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals

American Journal of Medical Genetics

Volumn 140 A, Issue 4, 2006, Pages 331-339

  Linnankivi, Tarja ^a   Tienari, Pentti ^b   Somer, Mirja ^c   Kähkönen, Marketta ^d   Lönnqvist, Tuula ^a   Valanne, Leena ^a   Pihko, Helena ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c Vaestoliitto   (Finland)

^d TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

18q deletion; Aural atresia; Dysmyelination; Myelin basic protein

Indexed keywords

MYELIN BASIC PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BRAIN; CHILD; CHROMOSOME 18Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; EAR MALFORMATION; FAMILY; FEMALE; FOOT MALFORMATION; GRAY MATTER; HUMAN; INFANT; INTELLIGENCE; MALE; MENTAL DEFICIENCY; MICROSATELLITE MARKER; MOLECULAR BIOLOGY; MYELIN DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PALATE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; WHITE MATTER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; MYELIN BASIC PROTEINS; PHENOTYPE;

EID: 32444432752     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31072     Document Type: Article

References (28)

1. Barkovich AJ, Kjos BO, Jackson DE Jr, Norman D. 1988. Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Radiology 166:173-180.
2. Baumann N, Pham-Dinh D. 2001. Biology of oligodendrocyle and myelin in the mammalian central nervous system. Physiol Rev 81:871-927.
3. Brkanac Z, Cody JD, Leach RJ, DuPont BR. 1998. Identification of cryptic rearrangements in patients with 18q- deletion syndrome. Am J Hum Genet 62:1500-1506.
4. Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ. 1997. Growth hormone insufficiency associated with haploinsufficiency at 18q23. Am J Med Genet 71:420-425.
5. Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RJ, Kaye CI. 1999. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 85:455-462.
6. Cody JD, Semrud-Clikeman M, Hardies JL, Lancaster J, Ghidoni PD, Schaub RL, Thompson NM, Wells L, Cornell JE, Love TM, Fox PT, Leach RJ, Kaye CI, Hale DE. 2005. Growth hormone benefits children with 18q deletions. Am J Med Genet Part A 137A:9-15.
7. Dacou-Voutetakis C, Sertedaki A, Maniatis-Christidis M, Sarri C, Karadima G, Petersen MB, Xaidara A, Kanariou M, Nicolaidou P. 1999. Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: Additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. J Med Genet 36:156-158.
8. Faed MJ, Whyte R, Paterson CR, 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. J Med Genet 9:102-105.
9. García-Cazorla A, Sans A, Baquero M, García-Barco MD, Arellano M, Poo P, Gean E, Campistol J. 2004. White matter alterations associated with chromosomal disorders. Dev Med Child Neurol 46:148-153.
10. Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Cornell JE, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT. 1997. MRI demonstrates incomplete myelination in 18q- syndrome: Evidence for myelin basic protein haploinsufficiency. Am J Med Genet 74:422-431.
11. Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ. 2003. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet Part A 120A:127-135.
12. Hale DE, Cody JD, Baillargeon J, Schaub R, Danney MM, Leach RJ. 2000. The spectrum of growth abnormalities in children with 18q deletions. J Clin Endocrinol Metab 85:4450-4454.
13. Linnankivi TT, Autti TH, Pihko SH, Somer MS, Tienari PJ, Wirtavuori KO, Valanne LK. 2003. 18q-syndrome: Brain MRI shows poor differentiation of gray and white matter on T2-weighted images. J Magn Reson Imaging 18:414-419.
14. Lipschutz W, Cadranel S, Lipschutz B, Martin L, Clees N, Martin J-J, Wauters JG, Coucke P, Willems P. 1999. 18q- syndrome with coeliac disease. Eur J Pediatr 158:528.
15. Loevner LA, Shapiro RM, Grossman RI, Overhauser J, Kamholz J. 1996. White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): A dysmyelinating disorder? Am J Neuroradiol 17:1843-1848.
16. Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM. 1996. Neuropsychiatry of 18q- syndrome. Am J Med Genet 67:172-178.
17. Maiwald R, Overhauser J, Laccone F. 2000. No evidence for imprinting in distal 18q. J Med Genet 37:152-156.
18. Miller G, Mowrey PN, Hopper KD, Frankel CA, Ladda RL. 1990. Neurologic manifestations in 18q- syndrome. Am J Med Genet 37:128-132.
19. Ono J, Harada K, Hasegawa T, Sakurai K, Kodaka R, Tanabe Y, Tanaka J, Igarashi T, Nagai T, Okada S. 1994. Central nervous system abnormalities in chromosome deletion at 11q23. Clin Genet 45:325-329.
20. Pihlaja H, Rantamäki T, Wikström J, Sumelahti ML, Laaksonen M, Ilonen J, Ruutiainen J, Pirttilä T, Elovaara I, Reunanen M, Kuokkanen S, Peltonen L, Koivisto K, Tienari PJ. 2003. Linkage disequilibrium between the MBP tetranucleotide repeat and multiple sclerosis is restricted to a geographically defined subpopulation in Finland. Genes and Immun 4:138-146.
21. Rosen P, Hopkin RJ, Glass D, Graham TB. 2004. Another patient with chromosome 18 deletion syndrome and juvenile rheumatoid arthritis. J Rheumatol 31:998-1000.
22. Silverman GA, Schneider SS, Massa HF, Flint A, Lalande M, Leonard JC, Overhauser J, van den Engh G, Trask BJ. 1995. The 18q- syndrome: Analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet 56:926-937.
23. Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. 1995. Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 59:476-483.
24. Tienari PJ, Wikström J, Sajantila A, Palo J, Peltonen L. 1992. Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet 340:987-991.
25. Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM. 2003. Definition of a critical region on chromosome 18 for congenital aural atresia by array CGH. Am J Hum Genet 72:1578-1584.
26. Wardinsky TD, Weinberger E, Pagon RA, Clarren SK, Thuline HC. 1990. Partial deletion of the long arm of chromosome 11[del (11)(q23.3 → qter)] with abnormal white matter. Am J Med Gen 35:60-63.
27. Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald-McGinn DM, Emanuel B, Fischbeck KH. 1991. Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion. Ann Neurol 30:419-423.
28. Wertelecki W, Gerald PS. 1971. Clinical and chromosomal studies of the 18q- syndrome. J Pediatr 78:44-52.