Trisomy 2q11.2→q21.1 resulting from an unbalanced insertion in two generations

Journal of Medical Genetics

Volumn 35, Issue 4, 1998, Pages 319-322

  Glass, Ian A ^a   Stormer, Peter ^b   Oei, Paul T S P ^c   Hacking, Ethel ^d   Cotter, Philip D ^c,e  

^a Herston Hospitals Campus   (Australia)

^b Stortford Medical Centre   (New Zealand)

^c STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^d Tokanui Hospital   (New Zealand)

^e CHILDREN S HOSPITAL OAKLAND   (United States)

Author keywords

Chromosome 2; Chromosome 8; Insertion; Trisomy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 2Q; DISEASE TRANSMISSION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE INSERTION; HUMAN; HUMAN CELL; INSULIN DEPENDENT DIABETES MELLITUS; KARYOTYPE 46,XX; MENTAL DEFICIENCY; PRIORITY JOURNAL; PSYCHOSIS; SHORT STATURE; TRISOMY;

EID: 0031978783     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.4.319     Document Type: Article

References (29)

1. Pettenati MJ, Rao N, Johnson C, et al. Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Hum Genet 1992;89:602-6.
2. Walker JL, Blank CE, Smith BAM. Interstitial deletion of the short arm of chromosome 5 in a mother and three children. J Med Genet 1984;21:465-7.
3. Keppen LD, Gollin SM, Edwards D, Sawyer J, Wilson W, Overhauser J. Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5. Am J Med Genet 1992;44:356-60.
4. Martinez JE, Tuck-Miller CM, Superneau D, Wertelecki W. Fertility and the cri du chat syndrome. Clin Genet 1993;43:212-14.
5. Fukushima Y, Kuroki Y, Ito T, Kondo I, Nishigaki I. Familial retinoblastoma (mother and son) with 13q14 deletion. Hum Genet 1987;77:104-7.
6. Cross I, Delhanty J, Chapman P, et al. An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J Med Genet 1992;29:175-9.
7. Cooke A, Tolmie JL, Colgan JM, Greig CM, Connor JM. Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry. Hum Genet 1989;83:83-7.
8. Van Hemel JO, Schaap C, Van Opstal D, Mulder MP, Niermeijer MF, Meijers JHC. Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. J Med Genet 1995;32:657-8.
9. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet 1996;65:309-16.
10. Neavel CB, Soukup S. Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes. Am J Med Genet 1994;53:321-4.
11. Barber JCK, Temple IK, Campbell PL, et al. Unbalanced translocation in a mother and her son in one of two 5;10 translocation families. Am J Med Genet 1996;62:84-90.
12. Rani AS, Jyothi A, Reddy PP, Reddy OS. Reproduction in Down's syndrome. Int J Gynecol Obstet 1990;31:81-6.
13. Bovicelli L, Orsini LF, Rizzo N, Montacuti V, Bacchetta M. Reproduction in Down syndrome. Obstet Gynecol 1982;59:13-17S.
14. Schaefer GB, Novak K, Steele D, et al. Familial inverted duplication 7p. Am J Med Genet 1995;56:184-7.
15. Dhooge C, Van Roy N, Craen M, Speleman F. Direct transmission of a tandem duplication in the short arm of chromosome 8. Clin Genet 1994;45:36-9.
16. Haddad BR, Lin AE, Wyandt H, Milunsky A. Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet 1996;33:1045-7.
17. Pot MLH, Giltay JC, van Wilsen A, Breslau-Siderius EJ. Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children. Clin Genet 1996;50:398-402.
18. Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 1986;83:2934-8.
19. Mu Y, Van Dyke DL, Weiss L, Olgac S. De novo direct duplication of the proximal long arm of chromosome 2:46,XX,dir dup(2)(q11.2q14.2). J Med Genet 1984;21:57-8.
20. Morahan G, Huang D, Tait BD, Colman PG, Harrison LC. Markers on distal chromosome 2q linked to insulin-dependent diabetes mellitus. Science 1996;272:1811-13.
21. Pulver AE, Lasseter VK, Kasch L, et al. Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes. Am J Med Genet 1995;60:252-60.
22. Kendler KS, MacLean CJ, O'Neill FA, et al. Evidence for a schizophrenia vulnerability locus on chromosome 8p in the Irish study of high-density schizophrenia families. Am J Psychiatry 1996;153:1434-540.
23. Kunugi H, Gurus D, Vallada HP, et al. A linkage study of schizophrenia with DNA markers from chromosome 8p21-22 in 25 multiplex families. Schizophr Res 1996;22:61-8.
24. Aschauer HN, Fischer G, Isenberg KE, et al. No proof of linkage between schizophrenia-related disorders including schizophrenia and chromosome 2q21 region. Eur Arch Psychiatry Clin Neurosci 1993;243:193-8.
25. Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi O. Chromosome imbalance, normal phenotype, and imprinting. J Med Genet 1990;27:582-7.
26. Wolff DJ, Raffel LJ, Ferré MM, Schwartz S. Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype. Am J Med Genet 1991;41:319-21.
27. Barber JCK, Mahl H, Portch J, Crawfurd Md'A. Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review. Prenat Diagn 1991;11:411-16.
28. Bernasconi F, Karagüzel A, Celep F, et al. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). Am J Hum Genet 1996;59:1114-18.
29. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992;2:292-300.