Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGH

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 22, Issue 11, 2009, Pages 1014-1020

  Choy, Kwong Wai ^a,b   Chan, Lin Wai ^a   Tang, Mary H Y ^c   Ng, Lucy K L ^c   Leung, Tak Yeung ^a   Lau, Tze Kin ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c TSAN YUK HOSPITAL   (Hong Kong)

Author keywords

Array CGH; Karyotyping; Natal diagnosis; Partial monosomy 6q; Partial trisomy 7q; Perinatal findings

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 6Q; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CLINODACTYLY; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS KARYOTYPING; FIRST TRIMESTER PREGNANCY; GASTROINTESTINAL MALFORMATION; HEMIVERTEBRA; HUMAN; HUMAN TISSUE; INDUCED ABORTION; KARYOTYPE 46,XY; MALE; MICROARRAY ANALYSIS; PARTIAL MONOSOMY; PARTIAL TRISOMY; PARTIAL TRISOMY 7Q; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCOLIOSIS; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ABORTED FETUS; ADULT; CHORIONIC VILLI SAMPLING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; KARYOTYPING; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 70350306891     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767050902994812     Document Type: Article

References (29)

1. Rai R, Regan L. Recurrent miscarriage. Lancet 2006;368: 601-613.
2. Saadi AA, Moghadam HA. Partial trisomy of the long arm of chromosome 7. Clin Genet 1976;9:250-254.
3. Johnson DD,Michels VV, Aas MA, Dewald GW. Duplication of 7q31.2-7qter and deficiency of 18qter: Report of two patients and literature review. Am J Med Genet 1986;25: 477-488.
4. Novales MA, Fernandez-Novoa C, Hevia A, San Martin V, Galera H. Partial trisomy for the long arm of chromosome 7. Case report and review. Hum Genet 1982;62:378-381.
5. Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F, Dallapiccola B. The phenotype of partial dup(7q) reconsidered: A report of five new cases. Clin Genet 1988;34:48-59.
6. Bartsch O, Kalbe U, Ngo TK, Lettau R, Schwinger E. Clinical diagnosis of partial duplication 7q. Am J Med Genet 1990;37:254-257.
7. Dallapiccola B, Bricarelli FD, Quartino AR, Mazzilli MC, Chisci R, Gandini E. Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients. Acta Genet Med Gemellol (Roma) 1978;27:57-66.
8. Wauters JG, Bossuyt PJ, Roelen L, van Roy B, Dumon J. Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clin Genet 1993;44:262-269.
9. Wegner RD, Schrock E, Obladen M, Becker R, Stumm M, Sperling K. Partial trisomy/monosomy 6q in fetal cells and CVS long-term culture not present in CVS short-term culture. Prenat Diagn 1996;16:741-748.
10. Kulharya AS, Carlin ME, Stettler RW, Huslig M, Kukolich MK, Garcia-Heras J. Prenatal diagnosis of a de novo trisomy 6q22.2!6qter and monosomy 1pter!1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q. Clin Genet 1997;51:115-117.
11. Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, Gersen S, White B, Schoonmaker MM. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 2001;21:293-301.
12. Ward BE, Gersen SL, Carelli MP, McGuire NM, Dackowski WR, Weinstein M, Sandlin C, Warren R, Klinger KW. Integrated genetics, Framingham rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: Clinical experience with 4,500 specimens. Am J Hum Genet 1993;52:854-865.
13. Hulten MA, Dhanjal S, Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: Advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 2003;126:279-297.
14. Kallioniemi A, Kallioniemi OP, Sudar D, Ritovitz D, Gray JW, Waldman F, Pinkel D. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992;258:818-821.
15. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998;20: 207-211.
16. Wells D, Sherlock JK, Handyside AH, Delhanty JD. Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res 1999;27:1214-1218.
17. Wells D, Delhanty JD. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 2000;6:1055-1062.
18. Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G, Ng BL, Scott C, Whittaker J, Adinolfi M, et al. Prenatal detection of unbalanced chromosomal rearrangements by array-CGH. J Med Genet 2006;43:353-361.
19. Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat Diagn 2008;28:943-949.
20. Law LW, Lau TK, Fung TY, Leung TY, Wang CC, Choy KW. De novo 16p13.11 microdeletion identified by highresolution array CGH in a fetus with increased nuchal translucency. BJOG 2009;116:339-343.
21. Berger R, Turc C, Wachter H, Begue G. Partial 7q trisomy. Clin Genet 1977;11:39-42.
22. Rodriguez L, Lopez F, Paisan L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martinez-Frias ML. Pure partial trisomy 7q: Two new patients and review. Am J Med Genet 2002;113:218-224.
23. Goodman BK, Stone K, Coddett JM, Cargile CB, Gurewitsch ED, Blakemore KJ, Stetten G. Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. Prenat Diagn 1999;19: 1150-1156.
24. Hagemeijer A, Hoovers J, Smit EM, Bootsma D. Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet Cell Genet 1977;18:333-348.
25. McLeod DR, Fowlow SB, Robertson A, Samcoe D, Burgess I, Hoo JJ. Chromosome 6q deletions: A report of two additional cases and a review of the literature. Am J Med Genet 1990;35:79-84.
26. Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. Monosomy 6q: Report on four new cases. Clin Genet 1992; 41:159-166.
27. Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review. Am J Med Genet A 2007;143: 791-798.
28. Artac H, Reisli I, Yildirim MS, Bagci G, Luleci G, Hosgor O, Karaaslan S. Hypogammaglobulinemia and Silver-Russell phenotype associated with partial trisomy 7q and partial monosomy 21q. Am J Med Genet A 2009;149A:277-279.
29. Courtens W, Vroman S, Vandenhove J, Wiedemann U, Schinzel A. Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). Prenat Diagn 2001;21:642-648.