Duplication 18q21.31-q22.2

American Journal of Medical Genetics, Part A

Volumn 143, Issue 4, 2007, Pages 343-348

  Ceccarini, Caterina ^a   Sinibaldi, Lorenzo ^a,b   Bernardini, Laura ^a   De Simone, Roberto ^c   Mingarelli, Rita ^a   Novelli, Antonio ^a   Dallapiccola, Bruno ^a,b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c S EUGENIO HOSPITAL   (Italy)

Author keywords

Chromosome 18q; Chromosome duplication; Dysmorphisms; Mental retardation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; FACE DYSMORPHIA; FEMALE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INHERITANCE; KARYOTYPE; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 18; CYTOGENETIC ANALYSIS; EYEBROWS; FEMALE; FINGERS; HUMANS; MALE; MENTAL RETARDATION; PHENOTYPE; SIBLINGS; STRABISMUS; SYNDACTYLY;

EID: 33846844969     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31588     Document Type: Article

References (18)

1. Bernardini L, Sinibaldi L, Ceccarini C, Novelli A, Dallapiccola B. 2005. Reproductive history of a healthy woman with mosaic duplication of chromosome 4p. Prenat Diagn 25:283-285.
2. Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Davis-Keppen L, Hudgins L, Overhauser J. 1994. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. Am J Hum Genet 55:476-483.
3. De Muelenaere A, Fryns JP, Van den Berghe H. 1981. Familial partial distal 18q (18q22-18q23) trisomy. Ann Génét 24:184-186.
4. Ehrlich S, Bustos T, Paika IJ, Milunsky A. 1983. Brief clinical report: Duplication 18q syndrome. Am J Med Genet 15:261-263.
5. Fryns JP, Detavernier F, van Fleteren A, van den Berghe H. 1978. Partial trisomy 18q in a newborn with typical 18 trisomy phenotype. Hum Genet 44:201-205.
6. Fryns JP, Vinken L, Marien J, Van den Berghe H. 1979. Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype. Hum Genet 46:341-344.
7. Gustavsson P, Kimber E, Wahlstrom J, Anneren G. 1999, Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3). Am J Med Genet 82:348-351.
8. Jenkins EC, Weed RG, Sandstrom MM. 1974. An additional case of partial trisomy 18. Ann Genet 17:45-48.
9. Lewkonia RM, Lin CC, Haslam RH. 1980. Selective IgA deficiency with 18q+ and 18q-karyotypic anomalies. J Med Genet 17:453-456.
10. Linnankivi T, Tienari P, Somer M, Kahkonen M, Lonnqvist T, Valanne L, Pihko H. 2006. 18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals. Am J Med Genet Part A 140A:331-339.
11. Matsuoka R, Matsuyama S, Yamamoto Y, Kuroki Y, Matsui I. 1981. Trisomy 18q. A case report and review of karyotype-phenotype correlations. Hum Genet 57:78-82.
12. Mewar R, Kline AD, Harrison W, Rojas K, Greenberg F, Overhauser J. 1993. Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18. Am J Hum Genet 53:1269-1278.
13. Neu RL, Ortega CC, Barg GA, Pinto W Jr, Gardner LI, Howell WM, Denton TE. 1976. Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18. J Med Genet 13:520-522.
14. Petty RE, Malleson P, Kalousek DK. 1987. Chronic arthritis in two children with partial deletion of chromosome 18. J Rheumatol 14:586-587.
15. Rauen KA, Bitts SM, Li L, Golabi M, Cotter PD. 2001. Tandem duplication mosaicism: Characterization of a mosaic dup(5q) and review. Clin Genet 60:366-370.
16. Turleau C, de Grouchy J. 1977. Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet 12:361-371.
17. Wilson MG, Towner JW, Forsman I, Siris E. 1979. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet 3:155-174.
18. Wolff DJ, Schwartz MF, Cohen MM, Schwartz S. 1993. Precise mapping of a de novo duplication 18(q21->q22) utilizing cytogenetic, biochemical, and molecular techniques. Am J Med Genet 46:520-523.