Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Houeijeh, Ali ^a   Andrieux, Joris ^a   Saugier Veber, Pascale ^b   David, Albert ^c   Goldenberg, Alice ^b   Bonneau, Dominique ^d   Fouassier, Marc ^c   Journel, Hubert ^e   Martinovic, Jelana ^f   Escande, Fabienne ^a   Devisme, Louise ^a   Bisiaux, Sophie ^g   Chaffiotte, Caroline ^a   Baux, Mathilde ^a   Kerckaert, Jean Pierre ^a,h   Holder Espinasse, Muriel ^a,h   Manouvrier Hanu, Sylvie ^a,h  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE ROUEN   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ D'ANGERS   (France)

^e Hôpital de Vannes   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g CENTRE HOSPITALIER DE VALENCIENNES   (France)

^h UNIV LILLE   (France)

Author keywords

1q21.1 deletion; Genetic counselling; Prenatal diagnosis; Radial aplasia; TAR syndrome

Indexed keywords

ADULT; ARTICLE; BONE RADIOGRAPHY; CHILD; CHROMOSOME 1Q; CHROMOSOME DELETION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC LYMPHANGIOMA; FEMALE; FETUS; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; LIMB MALFORMATION; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; PHOCOMELIA; QUANTITATIVE ANALYSIS; RARE DISEASE; SEX RATIO; SYNDROME; THROMBOCYTOPENIA; THROMBOCYTOPENIA ABSENT RADIUS SYNDROME;

ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; ECTROMELIA; FEMALE; GENETIC COUNSELING; HUMANS; MALE; PHENOTYPE; RADIUS; SEX FACTORS; THROMBOCYTOPENIA; UPPER EXTREMITY DEFORMITIES, CONGENITAL; YOUNG ADULT;

EID: 79961128493     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.05.001     Document Type: Article

References (26)

1. Ballmaier M., Schulze H., Cremer M., Folman C.C., Strauss G., Welte K. Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii. Stem Cells 1998, 16:177-184.
2. Bellver J., Lara C., Correa F.F., Serra V. Doubtful association between TAR syndrome and increased nuchal translucency in the first trimester of pregnancy. Prenat. Diagn. 2006, 26:382-383.
3. Bonsi L., Marchionni C., Alviano F., Lanzoni G., Franchina M., Costa R., Grossi A., Bagnara G.P. Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease. Exp. Hematol. 2009, 37:1-7.
4. Boute O., Depret-Mosser S., Vinatier D., Manouvrier S., Martin de Lassale E., Farriaux J.P., Monnier J.C. Prenatal diagnosis of thrombocytopenia-absent radius syndrome. Fetal. Diagn. Ther. 1996, 11:224-230.
5. Donnenfeld A.E. Prenatal diagnosis of thrombocytopenia in TAR syndrome. Prenat. Diagn. 1994, 14:73-74.
6. Fleischman R.A., Letestu R., Mi X., Stevens D., Winters J., Debili N., Vainchenker W. Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome. Br. J. Haematol. 2002, 116:367-375.
7. Geddis A.E. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol. Oncol. Clin. North. Am. 2009, 23:321-331.
8. Greenhalgh K.L., Howell R.T., Bottani A., Ancliff P.J., Brunner H.G., Verschuuren-Bemelmans C.C., Vernon E., Brown K.W., Newbury-Ecob R.A. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J. Med. Genet. 2002, 39:876-881.
9. Hall J.G., Levin J., Kuhn J.P., Ottenheimer E.J., van Berkum K.A., McKusick V.A. Thrombocytopenia with absent radius (TAR). Medicine (Baltimore) 1969, 48:411-439.
10. Hays R.M., Bartoshesky L.E., Feingold M. New features of thrombocytopenia and absent radius syndrome. Birth Defects Orig. Artic. Ser. 1982, 18:115-121.
11. Klopocki E., Schulze H., Strauss G., Ott C.E., Hall J., Trotier F., Fleischhauer S., Greenhalgh L., Newbury-Ecob R.A., Neumann L.M., Habenicht R., Konig R., Seemanova E., Megarbane A., Ropers H.H., Ullmann R., Horn D., Mundlos S. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 2007, 80:232-240.
12. Labrune P., Pons J.C., Khalil M., Mirlesse V., Imbert M.C., Odievre M., Daffos F., Tchernia G., Frydman R. Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome. Prenat. Diagn. 1993, 13:463-466.
13. Le Marec B., Odent S., Bracq H., Roussey M., Le Gall E., Gandon Y. Genetic counselling in a case of TAR syndrome where the father presented malformations of the feet. Clin. Genet. 1988, 34:104-108.
14. Letestu R., Vitrat N., Masse A., Le Couedic J.P., Lazar V., Rameau P., Wendling F., Vuillier J., Boutard P., Plouvier E., Plasse M., Favier R., Vainchenker W., Debili N. Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood 2000, 95:1633-1641.
15. Luthy D.A., Hall J.G., Graham C.B. Prenatal diagnosis of thrombocytopenia with absent radii. Clin. Genet. 1979, 15:495-499.
16. Martinez-Frias M.L., Bermejo Sanchez E., Garcia Garcia A., Perez Fernandez J.L., Cucalon Manzanos F., Calvo Aguilar M.J., Ripalda Crespo M.J. An epidemiological study of the thrombocytopenia with radial aplasia syndrome (TAR) in Spain. An. Esp. Pediatr. 1998, 49:619-623.
17. Oishi S.N., Carter P., Bidwell T., Mills J., Ezaki M. Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. J. Hand Surg. Am. 2009, 34:1696-1699.
18. Schnur R.E., Eunpu D.L., Zackai E.H. Thrombocytopenia with absent radius in a boy and his uncle. Am. J. Med. Genet. 1987, 28:117-123.
19. Shalev E., Weiner E., Feldman E., Cohen H., Zuckerman H. Micrognathia-prenatal ultrasonographic diagnosis. Int. J. Gynaecol. Obstet. 1983, 21:343-345.
20. Shelton S.D., Paulyson K., Kay H.H. Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery. Prenat. Diagn. 1999, 19:54-57.
21. Strippoli P., Savoia A., Iolascon A., Tonelli R., Savino M., Giordano P., D'Avanzo M., Massolo F., Locatelli F., Borgna C., De Mattia D., Zelante L., Paolucci G., Bagnara G.P. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). Br. J. Haematol. 1998, 103:311-314.
22. Thompson A.A., Nguyen L.T. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat. Genet. 2000, 26:397-398.
23. Tonelli R., Strippoli P., Grossi A., Savoia A., Iolascon A., Savino M., Teriaca M.S., Servedio V., Morfini M., Zelante L., Borgna-Pignatti C., Rosito P., Pession A., Paolucci G., Bagnara G.P. Hereditary thrombocytopenia due to reduced platelet production report on two families and mutational screening of the thrombopoietin receptor gene (c-mpl). Thromb. Haemost. 2000, 83:931-936.
24. Toriello H.V. Thrombocytopenia absent radius syndrome 2009, GeneReviews, Seattle. R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
25. Uhrig S., Schlembach D., Waldispuehl-Geigl J., Schaffer W., Geigl J., Klopocki E., Mundlos S., Speicher M.R. Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. Am. J. Hum. Genet. 2007, 81:866-868.
26. Ward R.E., Bixler D., Provisor A.J., Bader P. Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome. Am. J. Med. Genet. 1986, 2:207-214.