22q 11.2 Microdeletion in a Fetus With Double-outlet Right Ventricle, Pulmonary Stenosis and a Ventricular Septal Defect: Prenatal Diagnosis by Array Comparative Genomic Hybridization

Taiwanese Journal of Obstetrics and Gynecology

Volumn 48, Issue 4, 2009, Pages 437-440

  Chen, Chih Ping ^a,b,c,d,e   Su, Yi Ning ^f   Chang, Tung Yao ^a   Chern, Schu Rern ^b   Tsai, Fuu Jen ^a,d,g   Hwang, Jonathan Kwei ^h   Wang, Wayseen ^a,b  

^a TATUNG UNIVERSITY   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^g CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^h LOYOLA MARYMOUNT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ARTICLE; BIOMETRY; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME G BAND; COMPARATIVE GENOMIC HYBRIDIZATION; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HUMAN; KARYOTYPE 46,XX; PRENATAL DIAGNOSIS; PULMONARY VALVE STENOSIS; ADULT; CHROMOSOME 22; CHROMOSOME ABERRATION; CONGENITAL MALFORMATION; FEMALE; GENETICS; HEART SEPTUM DEFECT; HEART VENTRICLE; PREGNANCY;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HEART SEPTAL DEFECTS, VENTRICULAR; HEART VENTRICLES; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; PULMONARY VALVE STENOSIS;

EID: 77949498680     PISSN: 10284559     EISSN: 10284559     Source Type: Journal    
DOI: 10.1016/S1028-4559(09)60342-9     Document Type: Article

References (37)

1. Devriendt K., Fryns J.P., Mortier G., Van Thienen M.N., and Keymolen K. The annual incidence of DiGeorge/velocardio-facial syndrome. J Med Genet 35 (1998) 789-790
2. Burn J., Takao A., and Wilson D. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30 (1993) 822-824
3. McDonald-McGinn D.M., Driscoll D.A., Bason L., et al. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59 (1995) 103-113
4. Bawle E.V., Conard J., Van Dyke D.L., Czarnecki P., and Driscoll D.A. Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. Am J Med Genet 79 (1998) 406-410
5. Driscoll D.A. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 3 (2001) 14-18
6. Chaoui R., Körner H., and Bommer C. Prenatal assessment of the thymus in detecting fetuses with del.22q. Ultrasound Obstet Gynecol 16 s1 (2000) 82 [Abstract]
7. Chaoui R., Körner H., Bommer C., and Kalache K.D. Fetal thymus and the 22q11.2 deletion. Prenat Diagn 22 (2002) 839-840
8. Chaoui R., Kalache K.D., Heling K.S., Tennstedt C., Bommer C., and Körner H. Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Ultrasound Obstet Gynecol 20 (2002) 546-552
9. Boudjemline Y., Fermont L., Le Bidois J., Villain E., Sidi D., and Bonnet D. Can we predict 22q11 status of fetuses with tetralogy of Fallot?. Prenat Diagn 22 (2002) 231-234
10. Barrea C., Yoo S.J., Chitayat D., Valsangiacomo E., Winsor E., Smallhorn J.F., and Hornberger L.K. Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn 23 (2003) 9-15
11. Volpe P., Marasini M., Caruso G., et al. 22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs. Prenat Diagn 23 (2003) 752-757
12. Chen C.P., and Chien S.C. Prenatal sonographic features of 22q11.2 microdeletion syndrome. J Med Ultrasound 16 (2008) 123-129
13. Lautrup C.K., Kjaergaard S., Brøndum-Nielsen K., et al. Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype. Acta Obstet Gynecol Scand 87 (2008) 1252-1255
14. Moore J.W., Binder G.A., and Berry R. Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. Am J Obstet Gynecol 191 (2004) 2068-2073
15. Chen M., Hwu W.L., Kuo S.J., et al. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype. Ultrasound Obstet Gynecol 28 (2006) 939-943
16. Minier F., Carles D., Pelluard F., Alberti E.M., Stern L., and Saura R. DiGeorge syndrome, a review of 52 patients. Arch Pediatr 12 (2005) 254-257 [In French]
17. McDonald-McGinn D.M., Tonnesen M.K., Laufer-Cahana A., Finucane B., Driscoll D.A., Emanuel B.S., and Zackai E.H. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!. Genet Med 3 (2001) 23-29
18. Edelmann L., Pandita R.K., and Morrow B.E. Low-copy repeats mediate the common 3-Mb deletion in patients with velocardio-facial syndrome. Am J Hum Genet 64 (1999) 1076-1086
19. McDermid H.E., and Morrow B.E. Genomic disorders on 22q11. Am J Hum Genet 70 (2002) 1077-1088
20. Edelmann L., Pandita R.K., Spiteri E., et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8 (1999) 1157-1167
21. Edelmann L., Spiteri E., McCain N., et al. A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet 65 (1999) 1608-1616
22. Edelmann L., Spiteri E., Koren K., et al. AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet 68 (2001) 1-13
23. Carlson C., Sirotkin H., Pandita R., et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61 (1997) 620-629
24. Ben-Shachar S., Ou Z., Shaw C.A., et al. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 82 (2008) 214-221
25. Daw S.C.M., Taylor C., Kraman M., et al. A chromosome region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 13 (1996) 458-460
26. Kurahashi H., Nakayama T., Osugi Y., et al. Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. Am J Hum Genet 58 (1996) 1377-1381
27. Gottlieb S., Driscoll D.A., Punnett H., Sellinger B., Emanuel B.S., and Budarf M.L. Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. Am J Hum Genet 62 (1998) 495-498
28. McQuade L., Christodoulou J., Budarf M., Sachdev R., Wilson M., Emanuel B., and Colley A. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge critical region (MDGCR). Am J Med Genet 86 (1999) 27-33
29. Rausch A., Pfeiffer R.A., Leipold G., Singer H., Tigges M., and Hofbeck M. A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet 64 (1999) 659
30. Saitta S., McGrath J.M., Mensch H., Shaikh T.H., Zackai E.H., and Emanuel B.S. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet 65 (1999) 562-566
31. Tsai C.H., Van Dyke D.L., and Feldman G.L. Child with velocardiofacial syndrome and del(4)(q34.2): another critical region associated with a velocardiofacial syndrome-like pheno-type. Am J Med Genet 82 (1999) 336-339
32. Yamagishi H., Garg V., Matsuoka R., Thomas T., and Srivastava D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283 (1999) 1158-1161
33. Choolani M., Ho S.S., Razvi K., et al. FastFISH: technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis. Mol Hum Reprod 13 (2007) 355-359
34. Göktolga U., Gezginç K., Ceyhan S.T., Fidan U., Ergün A., Bahçe M., and Başer I. Prenatal diagnosis of DiGeorge syndrome. Taiwan J Obstet Gynecol 47 (2008) 441-442
35. Jalali G.R., Vorstman J.A., Errami A., Vijzelaar R., Biegel J., Shaikh T., and Emanuel B.S. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat 29 (2008) 433-440
36. Bittel D.C., Yu S., Newkirk H., Kibiryeva N., Holt III A., Butler M.G., and Cooley L.D. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res 124 (2009) 113-120
37. Vialard F., Molina Gomes D., Leroy B., et al. Array comparative genomic hybridization in prenatal diagnosis: another experience. Fetal Diagn Ther 25 (2009) 277-284