M. KAZANDI, V. TURAN, B. ZEYBEK, A. ARGON

Emanuel Sendromu

35 yaşında daha önceden 1 aylık spontan abortusu bulunan ve miad sezaryen doğum ile 3300gr sağlıklı çocuğu olan hastada şimdiki gebeliğinde yapılan 2. düzey taramasında ; nukal foldda kalınlaşma, diafragma hernisi, komplet endokardial yastık defekti ve trunkus arteriosis saptanması üzerine amniosentez yapıldı ve gebelik sonlandırılmasına gidildi. Misoprostol 200mg 6x1 uygulandı. Yapılan genetik incelemede 47, .. , +der(22) t(11,22) (q25;q13) saptandı. Aileye yapılan kromozom analizinde annede 46,XX t(11,22) (q25;q13) bulunurken baba normal karyotipe sahipti.

Emanuel Syndrome

A 35 year old pregnant woman who had previous had a child by cesarean section and a previous abortion, was referred to our clinic because of an increased risk in a second trimester screening at 20 weeks. When we investigated with detailed ultrasonograpy, increased nuchal fold thickness, diaphragma hernia, complete endocardial cushion defect and truncus arteriosus were found. Amniosentesis was performed and the pregnancy was terminated medically with usage of vaginal and oral misoprostol. After chromosomal analysis, 47,.., +der(22) t(11,22) (q25;q13) was assigned. Although paternal chromosomes analysis was normal; maternal chromosomes corresponded with 46,XX t(11,22) (q25;q13), which is a carrier for this syndrome.

PDF

___

1) Yosunkaya Fenerci E, Guven GS, Kuru D, Yilmaz S, Tarkan-Argüden Y, Cirakoglu A, Deviren A, Yüksel A, Hacihanefioğlu S. Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features Genet Couns.2007;18:401-8.
2) Afroze B, Ngu LH, Roziana A, Aminah M, Noor Shahizan A. Supernumerary derivative (22) syndrome resulting from a maternal balanced translocation Singapore Med J. 2008 49:372-4.
3) Hou JW. Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation. Chang Gung Med J. 2003 ;26:48-52.
4) 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.
5) Gremeau AS, Coste K, Blanc P, Goumy C, Francannet C, Dechelotte PJ, Vago P, Laurichesse-Delmas H, Labbe A, Lemery D, Sapin V, Gallot D. Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome Prenat Diagn. 2009 ;29:816-8.
6) Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet A. 2009 ;149A:1712-21.
7) Klassens M, Scott DA, van Dooren M, Hochstenbach R, Eussen HJ, Cai WW, Galjaard RJ, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A. Congenital diaphragmatic hernia associated with duplication of 11q23-qter. Am J Med Genet 2006;140A:1580–1586.
8) Emanuel BS. Comparison of constitutional and tumor-associated 11;22 translocations: Nonidentical breakpoints on chromosomes 11 and 22. Proc Natl Acad Sci 1986;83:6122–6126.
9) Lin AL, Bernar J, Chin AJ, Sparkes RS, Emanuel BS, Zackai EH. Congenital heart disease in supernumerary der(22), t(11;22) syndrome. Clin Genet 1986;29:269–275.
10) McDermid HE, Duncan AM, Brasch KR, Holden JJ, Magenis E, Sheehy R, Burn J, Kardon N, Noel B, Schinzel A. Characterization of the supernumerary chromosome in Cat Eye Syndrome. Science 1986;232:646–648