Prenatal diagnosis of de novo terminal deletion of chromosome 7q

Prenatal Diagnosis

Volumn 23, Issue 5, 2003, Pages 375-379

  Chen, Chih Ping ^a,b   Chern, Schu Rern ^a   Chang, Tung Yao ^a   Tzen, Chin Yuan ^a   Lee, Chen Chi ^a   Chen, Wen Lin ^a   Lee, Meng Shan ^a   Wang, Wayseen ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

7q terminal deletion; Human chorionic gonadotrophin; Maternal serum multiple marker screening; Microcephaly; Prenatal diagnosis; Tetralogy of Fallot; Ultrasound

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN BETA SUBUNIT;

ADULT; AMNIOCENTESIS; AMNIOTIC FLUID CELL; ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; DOWN SYNDROME; ECHOGRAPHY; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC MARKER; GESTATIONAL AGE; GONADOTROPIN BLOOD LEVEL; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; MATERNAL AGE; MICROCEPHALY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RADIOGRAPHY; RISK ASSESSMENT; SCREENING TEST;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; ADULT; AMNIOCENTESIS; CHORIONIC GONADOTROPIN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; CYTOGENETIC ANALYSIS; DNA; FEMALE; FETAL GROWTH RETARDATION; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; MICROCEPHALY; POLYMERASE CHAIN REACTION; PREGNANCY; TETRALOGY OF FALLOT; ULTRASONOGRAPHY, PRENATAL;

POMACANTHUS MACULOSUS;

EID: 0038241184     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.602     Document Type: Article

References (32)

1. Ariel I, Lerer I, Yagel S, Cohen R, Ben-Neriah Z, Abeliovich D. 1997. Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation. Prenat Diagn 17: 180-183.
2. Barkai G, Goldman B, Ries L, Chaki R, Dor J, Cuckle H. 1996. Down's syndrome screening marker levels following assisted reproduction. Prenat Diagn 16: 1111-1114.
3. Barnes-Kedar I, Amiel A, Maor O, Fejgin M. 1993. Elevated human chorionic gonadotrophin levels in pregnancies with sex chromosome abnormalities. Am J Med Genet 45: 356-357.
4. Benn PA, Horne D, Briganti S, Greenstein RM. 1995. Prenatal diagnosis of diverse chromosome abnormalities in a population of patients identified by triple-marker testing as screen positive for Down syndrome. Am J Obstet Gynecol 173: 496-501.
5. Benn PA, Horne D, Briganti S, Rodis JF, Clive JM. 1996. Elevated second-trimester maternal serum hCG alone or in combination with elevated alpha-fetoprotein. Obstet Gynecol 87: 217-222.
6. Chen C-P, Chern S-R, Liu F-F, et al. 1997. Prenatal diagnosis of a deletion of 18q in a fetus associated with multiple-marker screen positive results. Prenat Diagn 17: 571-576.
7. Chen J-H, Hsu T-Y, Ou C-Y, Chang L-F, Chang S-Y, Soong Y-K. 1999. Prenatal diagnosis of trisomy 20 mosaicism by maternal serum screening for Down syndrome. Eur J Obstet Gynecol Reprod Biol 86: 175-177.
8. Cuckle HS, Densem JW, Wald NJ. 1992. Detection of hydatidiform mole in maternal serum screening programmes for Down syndrome. Br J Obstet Gynecol 99: 495-497.
9. Fejgin MD, Kedar I, Amiel A, et al. 1997. Elevated hCG as an isolated finding during the second trimester biochemical screen: genetic, ultrasonic, and perinatal significance. Prenat Diagn 17: 1027-1031.
10. Frints SGM, Schoenmakers EFPM, Smeets E, Petit P, Fryns J-P. 1998a. De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly. Am J Med Genet 75: 153-158.
11. Frints SGM, Schrander-Stumpel CTRM, Schoenmakers EFPM, et al. 1998b. Strong variable clinical presentation in 3 patients with 7q terminal deletion. Genet Couns 9: 5-14.
12. Groli C, Cerri V, Tarantini M, et al. 1996. Maternal serum screening and trisomy 16 confined to the placenta. Prenat Diagn 16: 685-689.
13. Harris EL, Wappner RS, Palmer CG, et al. 1977. 7q deletion syndrome (7q32→7qter). Clin Genet 12: 233-238.
14. Hsu T-Y, Kung F-T, Ou C-Y, et al. 1998a. Prenatal diagnosis of de novo interstitial deletion of proximal 4q by maternal serum screening for Down syndrome. Prenat Diagn 18: 1323-1327.
15. Hsu W-T, Shchepin DA, Mao R, et al. 1998b. Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet 80: 473-480.
16. Joyner AL. 1996. Engrailed, Wnt and Pax genes regulate midbrainhindbrain development. Trends Genet 12: 15-20.
17. Lynch SA, Bond PM, Copp AJ, et al. 1995. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 11: 93-95.
18. Morssink LP, Sikkema-Raddatz B, Beekhuis JR, De Wolf BTHM, Mantingh A. 1996. Placental mosaicism is associated with unexplained second-trimester elevation of MShCG levels, but not with elevation of MSAFP levels. Prenat Diagn 16: 845-851.
19. Muller F, Aegerter P, Boue A. 1993. Prospective maternal serum human chorionic gonadotropin screening for the risk of fetal chromosome anomalies and of subsequent fetal and neonatal deaths. Prenat Diagn 13: 29-43.
20. Ribbert LSM, Kornman LH, De Wolf BTHM, et al. 1996. Maternal serum screening for fetal Down syndrome in IVF pregnancies. Prenat Diagn 16: 35-38.
21. Roessler E, Belloni E, Gaudenz K, et al. 1996. Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nat Genet 14: 357-360.
22. Ross AJ, Ruiz-Perez V, Wang Y, et al. 1998. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20: 358-361.
23. Schanen NC, Scherer SW, Tsui L-C, Francke U. 1996. Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1. Cytogenet Cell Genet 72: 187, 188.
24. Schmidt D, Rose E, Greenberg F. 1993. An association between fetal abdominal wall defects and elevated levels of human chorionic gonadotropin in mid-trimester. Prenat Diagn 13: 9-12.
25. Song D-L, Chalepakis G, Gruss P, Joyner AL. 1996. Two Paxbinding sites are required for early embryonic brain expression of an Engrailed-2 transgene. Development 122: 627-635.
26. Sorensen TK, Williams MA, Zingheim RW, Clement SJ, Hickok DE. 1993. Elevated second-trimester human chorionic gonadotropin and subsequent pregnancy induced hypertension. Am J Obstet Gynecol 169: 834-838.
27. Tanaka M, Natori M, Kohno H, Ishimoto H, Kobayashi T, Nozawa S. 1993. Fetal growth with elevated maternal serum hCG levels. Obstet Gynecol 81: 341-343.
28. Tantravahi U, Matsumoto C, Delach J, Craffey A, Smeltzer J, Benn P. 1996. Trisomy 16 mosaicism in amniotic fluid cell cultures. Prenat Diagn 16: 749-754.
29. Thomas DG, Jacques SM, Flore LA, Feldman B, Evans MI, Qureshi F. 2000. Prenatal diagnosis of Smith-Magenis syndrome (del 17p11.2). Fetal Diagn Ther 15: 335-337.
30. Towner DR, Shaffer LG, Yang SP, Walgenbach DD. 2001. Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction. Prenat Diagn 21: 395-398.
31. Wenstrom KD, Williamson RA, Grant SS. 1994. Detection of fetal Turner syndrome with multiple marker screening. Am J Obstet Gynecol 170: 570-573.
32. Zimmermann R, Lauper U, Streicher A, Huch R, Huch A. 1995. Elevated alpha-fetoprotein and human chorionic gonadotropin as a marker for placental trisomy 16 in the second trimester? Prenat Diagn 15: 1121-1124.