Prenatal diagnosis of the distal 11q deletion and review of the Literature

Prenatal Diagnosis

Volumn 24, Issue 2, 2004, Pages 130-136

  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   Chen, Li Feng ^a   Wang, Wayseen ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Digits and limbs; Distal 11q deletion; Elevated maternal serum alpha fetoprotein; Jacobsen syndrome; Prenatal diagnosis; Ultrasound

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN BETA SUBUNIT;

ADULT; AMNIOCENTESIS; ARTICLE; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME DELETION; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; GENETIC MARKER; GESTATIONAL AGE; HUMAN; JACOBSEN SYNDROME; KARYOTYPE; MATERNAL AGE; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIMIGRAVIDA; PRIORITY JOURNAL;

ADULT; AMNIOCENTESIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CRANIOFACIAL ABNORMALITIES; FEMALE; FETAL DISEASES; HUMANS; KARYOTYPING; MICROSATELLITE REPEATS; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 1542380918     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.802     Document Type: Article

References (35)

1. Baena N, De Vigan C, Cariati E, et al. 2003. Prenatal detection of rare chromosomal autosomal abnormalities in Europe. Am J Med Genet 118A: 319-327.
2. Benn P. 1998. Trisomy 16 and trisomy 16 mosaicism: a review. Am J Med Genet 79: 121-133.
3. Bui TH, Iselius L, Lindsten J. 1984. European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cell in amniotic fluid cell cultures. Prenat Diagn 4: 145-162.
4. Chao M-C, Yang S-Y, Chang Y, et al. 2001. Prenatal diagnosis of der(11)t(11;18)(q24;q21.3) due to paternal balanced translocation and both parents are carriers of α-thalassemia-1 - a case report. Kaohsiung J Med Sci 17: 430-436.
5. Chen C-P. 1999. Inconsistency of omphalocele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q. Prenat Diagn 19: 591.
6. Chen C-P, Chem S-R, Tzen C-Y, et al. 2001. Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts. Prenat Diagn 21: 317-320.
7. Chen C-P, Lee C-C, Chuang C-Y, Town D-D, Lee M-S, Chen M-H. 1997. Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q. Clin Genet 52: 196-198.
8. Chen C-P, Tzen C-Y, Chang T-Y, et al. 2002. Prenatal diagnosis of partial trisomy 3p and partial monosomy 11q in a fetus with a Dandy-Walker variant and trigonocephaly. Prenat Diagn 22: 1112-1114.
9. Chitayat D, Farrell SA, Huang T, Meier C, Wyatt PR, Summers AM. 2002. Double-positive maternal serum screening results for Down syndrome and open neural tube defects: an indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes. Am J Obstet Gynecol 187: 758-763.
10. Daniel A, Hook EB, Wulf G. 1989. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian Laboratories. Am J Med Genet 31: 14-53.
11. de Vries BBA, Winter R, Schinzel A, van Ravenswaaij-Arts C. 2003. Telomeres: a diagnosis at the end of the chromosomes. J Med Genet 40: 385-398.
12. Donnenfeld AE, Zackai EH, Emmanuel BS. 1990. Chromosome 11, monosomy 11q. In Birth Defects Encyclopedia, Buyse ML (ed.). Blackwell Scientific Publications: Cambridge; 360-361.
13. Feuchtbaum LB, Cunningham G, Waller K, Lustig LA, Tompkinson G, Hook EB. 1995. Fetal karyotyping for chromosome abnormalities after an unexplained elevated maternal serum alpha-fetoprotein screening. Obstet Gynecol 86: 248-254.
14. Fryns JP, Kleczkowska A, Buttiens M, Marien P, Van den Berghe H. 1986. Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. Clin Genet 30: 255-260.
15. Hsu W-T, Shchepin DA, Mao R, et al. 1998. Mosaic trisomy 16 ascertained through amniocentesis: evaluation of II new cases. Am J Med Genet 80: 473-480.
16. Hsu LYF, Yu M-T, Neu RL, et al. 1997. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: Karyotype/phenotype correlations. Prenat Diagn 17: 201-242.
17. Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. 1973. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring: a clinical, cytogenetical and gene marker study. Hum Hered 23: 568-585.
18. Jones C, Müllenbach R, Grossfeld P, et al. 2000. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. Hum Mol Genet 9: 1201-1208.
19. Jones C, Penny L, Mattina T, et al. 1995. Association of a chromosome deletion syndrome with a fragile site within the protooncogene CBL2. Nature 376: 145-149.
20. Jones C, Slijepcevic P, Marsh S, et al. 1994. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome eletion breakpoint in 11q23.3. Hum Mol Genet 3: 2123-2130.
21. Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ. 1999. 11q-syndrome: three cases and a review of the literature. Genet Couns 10: 305-313.
22. McClelland SM, Smith APM, Smith NC, Gray ES, Diack JSW, Dean JCS. 1998. Nuchal thickening in Jacobsen syndrome. Ultrasound Obstet Gynecol 12: 280-282.
23. Michaelis RC, Velagaleti GV, Jones C, et al. 1998. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Am J Med Genet 76: 222-228.
24. Miller RI, Stephan MJ, Hume RF, et al. 2001. Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn. Fetal Diagn Ther 16: 120-122.
25. Penny LA, Dell'Aquila M, Jones MC, et al. 1995. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56: 676-683.
26. Pivnick EK, Velagaleti GVN, Wilroy RS, et al. 1996. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases. J Med Genet 38: 772-778.
27. Porter S, Wilson E, Tyler X, Warren R, Ffrench-Constant C, Pearson J. 1999. A case of discordant related abnormal karyotypes from chorionic villi and amniocytes. Prenat Diagn 19: 887-890.
28. Sago H, Chen E, Conte WJ, et al. 1997. True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities. Am J Med Genet 72: 343-346.
29. Schinzel A, Auf der Maur P, Moser H. 1977. 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: 438-444.
30. Schinzel A. 1983. Catalogue of Unbalanced Chromosome Aberrations in Man, de Gruyter: Berlin; 432-433, 857.
31. Stefanou E-GG, Hanna G, Foakes A, Crocker M, Fitchett M. 2002. Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly. Prenat Diagn 22: 64-66.
32. Thiagarajah S, Stroud CB, Vavelidis F, Schnorr JA Jr, Schnatterly PT, Ferguson JEII. 1995. Elevated maternal serum α-fetoprotein levels: What is the risk of fetal aneuploidy? Am J Obstet Gynecol 173: 388-392.
33. Warner AA, Pettenati MJ, Burton BK. 1990. Risk of fetal chromosomal anomalies in patients with elevated maternal serum alpha-fetoprotein. Obstet Gynecol 75: 64-66.
34. Wax JR, Smith JF, Floyd RC, Eggleston MK. 1995. Prenatal ultrasonographic findings associated with Jacobsen syndrome. J Ultrasound Med 14: 256-258.
35. Yaron Y, Cherry M, Kramer RL, et al. 1999. Second-trimester maternal serum marker screening: maternal serum α-fetoprotein, β-human chorionic gonadotrophin, estriol, and their various combinations as predictors of pregnancy outcome. Am J Obstet Gynecol 181: 968-974.