At least nine cases of trisomy 11q23t → qter in one generation as a result of familial t(11;13) translocation

Journal of Medical Genetics

Volumn 34, Issue 1, 1997, Pages 18-23

  Smeets, Dominique ^a   Van Ravenswaaij, Conny ^a   De Pater, Joke ^b   Gerssen Schoorl, Klasien ^c   Van Hemel, Jan ^d   Janssen, Guus ^a   Smits, Arie ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Centre for Biomedical Genetics   (Netherlands)

^c Streeklaboratorium V Pathol/MM   (Netherlands)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Chromosomal polymorphisms; Chromosome translocation; Trisomy 11q

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 11Q; CHROMOSOME 13P; CHROMOSOME TRANSLOCATION 11; CLINICAL ARTICLE; CLINICAL EXAMINATION; FEMALE; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; KARYOTYPE; MALE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; TRISOMY;

ADULT; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MENTAL RETARDATION; PEDIGREE; POLYMORPHISM, GENETIC; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0031018685     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Francke U, Weber F, Sparkes RS, Mattson PD, Mann J. Duplication 11q(21 to 23→qter) syndrome. Birth Defects 1977;13(3B):167-86.
2. de Grouchy J, Turleau C. Clinical atlas of human chromosomes. New York: John Wiley, 1977.
3. Bader PJ, Jansch M, Hoffman D, Palmer CG, Gerber H, Taylor G. Trisomy 11q(q21→qter). Birth Defects 1978; 14(6C):383-92.
4. Pihko H, Therman E, Uchida IA. Partial 11q trisomy syndrome. Hum Genet 1981;58:129-34.
5. Greig F, Rosenfeld W, Verrna RS, Babu KA, David K. Duplication 11 (q22→qter) in an infant: a case report with review. Ann Genet (Paris) 1985;28:185-8.
6. Fraccaro M, Lindsten J, Ford CE, Iselius L. The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet 1980;56:21-51.
7. Iselius L, Kindsteen J, Aurias A, et al. The 11q;22q translocation. A collaborative study of 20 new cases and analysis of 110 families. Hum Genet 1983;64:345-55.
8. Aurias A, Turc C, Michiels Y, Sinet PM, Graveleau D, Lejeune J. Deux cas de trisomie 11q(q23.1→qter) par translocation t(11;22)(q231;q111) dans deux families differentes. Ann Genet (Paris) 1975;18:185-8.
9. Ayraud GA, Galiana A, Lloyd M. Deswarte M. Trisomie 11q(q23.1→qter) par translocation maternelle t(11; 22)(q23.1;q11.1) Ann Genet (Paris) 1976;19:65-8.
10. DeFrance HF, Beemer FA, Senders RCh, Gerards LJ, Cats BP. Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture. Clin Genet 1984;25: 295-9.
11. Giraud F, Mattei JF, Mattei MG, Bernard R. Trisomie partielle 11q et translocation familiale 11-22. Hum Genet 1975;28:343-7.
12. Laurent C, Biernont MCI, Bethenod M, Cret L, David M. Deux observation de trisomie 11q(q23.1→qter) avec 1a même anomalie des organes genitaux externes. Ann Genet (Paris) 1975;18:179-84.
13. Lurie IW, Lazjuk GI, Usova YI, Gurevich DB. Partial trisomy 11q as the result of sporadic translocation. Hum Genet 1979;51:63-6.
14. Mann J, Rafferty JH, Cri-du-chat syndrome combined with partial C-group trisomy. J Med Genet 1972;9:289-92.
15. Mutchinik O, Ramos Z, Sánchez F, Ruz L, Lisker R, Ovseyevitz J. Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations. Am J Med Genet 1988;29:187-92.
16. Nakai H, Yamamoto Y, Kuroki Y. Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations. Hum Genet 1979;51:349-55.
17. Noel B, Levy M, Rethoré MO. Trisomie partielle du bras long du chromosome 11 par malségrégation d'une translocation maternelle t(11;22)(q231;q111). Ann Genet (Paris) 1976;19:137-9.
18. Noir A, Leroux M, Bresspn JL, et al. La trisomie 11q: á propos de deux cas. Pediatrie 1987;42:441-1.
19. Pfeiffer RA, Schütz C. Tandem duplication 11q23→qter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities. Ann Genet (Paris) 1993;36:163-6.
20. Ridler MAC, McKeown JA. 11q aneuploidy: partial monosomy and trisomy in the children of a mother with a t(3; 11)(p27;q23) translocation. Hum Genet 1979;52:101-6.