Prenatal diagnosis of mosaicism for 11q terminal deletion

European Journal of Medical Genetics

Volumn 50, Issue 6, 2007, Pages 475-481

  Valduga, M ^a   Cannard, V Latger ^a   Philippe, C ^a   Romana, S ^b   Miton, A ^c   Droulle, P ^c   Foliguet, B ^c   Lecompte, T ^a   Jonveaux, P ^a  

^a UNIVERSITY HOSPITAL OF NANCY   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c Maternite Regionale Universitaire   (France)

Author keywords

11qter deletion mosaicism; Jacobsen syndrome; Paris Trousseau syndrome; Prenatal diagnosis

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 11; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; DNA DETERMINATION; DOWN SYNDROME; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HUMAN; JACOBSEN SYNDROME; MONOSOMY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; ULTRASOUND;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 36348969003     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.06.002     Document Type: Article

References (20)

1. Boehm D., Laccone F., Burfeind P., Herold S., Schubert C., Zoll B., Manner J., Pauer H.U., and Bartels I. Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q. Prenat. Diagn 26 (2006) 286-290
2. Breton-Gorius J., Favier R., Guichard J., Cherif D., Berger R., Debili N., Vainchenker W., and Douay L. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 85 (1995) 1805-1814
3. Bui T.H., Iselius L., and Lindsten J. European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat. Diagn 4 Spec No (1984) 145-162
4. Chen C.P., Chern S.R., Chang T.Y., Tzen C.Y., Lee C.C., Chen W.L., Chen L.F., and Wang W. Prenatal diagnosis of the distal 11q deletion and review of the literature. Prenat. Diagn 24 (2004) 130-136
5. Chen C.P., Chern S.R., Tzen C.Y., Lee M.S., Pan C.W., Chang T.Y., and Wang W. Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts. Prenat. Diagn 21 (2001) 317-320
6. Donnenfeld A., Zackai E., and Emmanuel B. Chromosome 11, monosomy 11q. In: Buyse M.L. (Ed). Birth Defect Encyclopedia (1990), Blackwell Scientific Publications, Cambridge 360-361
7. Favier R., Douay L., Esteva B., Portnoi M.F., Gaulard P., Lecompte T., Perot C., Adam M., Lecrubier C., Van den Akker J., Lasfargues G., Najean Y., and Breton-Gorius J. A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23. C R, Acad. Sci. III 316 (1993) 698-701
8. Favier R., Jondeau K., Boutard P., Grossfeld P., Reinert P., Jones C., Bertoni F., and Cramer E.M. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb. Haemost 90 (2003) 893-897
9. Fryns J.P., Kleczkowska A., Buttiens M., Marien P., and van den Berghe H. Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. Clin. Genet. 30 (1986) 255-260
10. Grossfeld P.D., Mattina T., Lai Z., Favier R., Jones K.L., Cotter F., and Jones C. The 11q terminal deletion disorder: a prospective study of 110 cases. Am. J. Med. Genet. A 129 (2004) 51-61
11. Jacobsen P., Hauge M., Henningsen K., Hobolth N., Mikkelsen M., and Philip J. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum. Hered 23 (1973) 568-585
12. Kaffe S., Hsu L.Y., Sachdev R.K., Philips J., and Hirschhorn K. Partial deletion of long arm of chromosome 11: del (11) (q23). Clin. Genet. 12 (1977) 323-328
13. Krishnamurti L., Neglia J.P., Nagarajan R., Berry S.A., Lohr J., Hirsch B., and White J.G. Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. Am. J. Hematol 66 (2001) 295-299
14. Laleye A., Delneste D., Pradier O., Hans C., Darboux R., and Ogur G. Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization. Am. J. Med. Genet. 110 (2002) 170-175
15. Penny L.A., Dell'Aquila M., Jones M.C., Bergoffen J., Cunniff C., Fryns J.P., Grace E., Graham Jr. J.M., Kousseff B., Mattina T., Syme J., Voullaire L., Zelante L., Zenger-Hain J., Jones O.W., and Evans G.A. Clinical and molecular characterization of patients with distal 11q deletions. Am. J. Hum. Genet. 56 (1995) 676-683
16. Porter S., Wilson E., Tyler X., Warren R., ffrench-Constant C., and Pearson J. A case of discordant related abnormal karyotypes from chorionic villi and amniocytes. Prenat. Diagn 19 (1999) 887-890
17. Raslova H., Komura E., Le Couedic J.P., Larbret F., Debili N., Feunteun J., Danos O., Albagli O., Vainchenker W., and Favier R. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J. Clin. Invest 114 (2004) 77-84
18. Ridler M.A., and McKeown J.A. 11q aneuploidy: partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation. Hum. Genet. 52 (1979) 101-106
19. In: Schinzel A. (Ed). Catalogue of Unbalanced Chromosome Aberrations in Man (1984), Walter de Gruyter, Berlin 432-433 857
20. Schinzel A., Auf der Maur P., and Moser H. Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. J. Med. Genet 14 (1977) 438-444