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

References

• Rai R, Regan L. Recurrent miscarriage. Lancet 2006;368:601–613.
   PubMed Web of Science ®Google Scholar
• Saadi AA, Moghadam HA. Partial trisomy of the long arm of chromosome 7. Clin Genet 1976;9:250–254.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Bartsch O, Kalbe U, Ngo TK, Lettau R, Schwinger E. Clinical diagnosis of partial duplication 7q. Am J Med Genet 1990;37:254–257.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Law LW, Lau TK, Fung TY, Leung TY, Wang CC, Choy KW. De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency. BJOG 2009;116:339–343.
   PubMed Web of Science ®Google Scholar
• Berger R, Turc C, Wachter H, Begue G. Partial 7q trisomy. Clin Genet 1977;11:39–42.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. Monosomy 6q: report on four new cases. Clin Genet 1992;41:159–166.
   PubMedGoogle Scholar
• 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.
   Google Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar