De novo balanced chromosome rearrangements in prenatal diagnosis

Prenatal Diagnosis

Volumn 29, Issue 3, 2009, Pages 257-265

  Giardino, Daniela ^a   Corti, Cecilia ^a   Ballarati, Lucia ^a   Colombo, Daniela ^a   Sala, Elena ^b   Villa, Nicoletta ^b   Piombo, Giuseppe ^c   Pierluigi, Mauro ^c   Faravelli, Francesca ^c   Guerneri, Silvana ^d   Coviello, Domenico ^d   Lalatta, Faustina ^e   Cavallari, Ugo ^e   Bellotti, Daniela ^f   Barlati, Sergio ^f   Croci, Gianfranco ^g   Franchi, Fabrizia ^g   Savin, Elisa ^h   Nocera, Gianfranco ⁱ   Amico, Francesco Paolo ⁱ   Granata, Paola ^j   Casalone, Rosario ^j   Nutini, Lucia ^k   Lisi, Ermanna ^k   Torricelli, Francesca ^k   Giussani, Ursula ^l   Facchinetti, Barbara ^l   Guanti, Ginevra ^m   Giacomo, Marilena Di ^m   Susca, Francesco Paolo ^m   Pecile, Vanna ⁿ   Romitti, Lorenza ^o   Cardarelli, Laura ^p   Racalbuto, Erika ^q   Police, Maria Adalgisa ^r   Chiodo, Francamaria ^s   Rodeschini, Ornella ^t   Falcone, Patrizia ^u   Donti, Emilio ^v   Grimoldi, Maria Grazia ^w   Martinoli, Emanuela ^x   Stioui, Sabine ^y   Caufin, Daniele ^z   Lauricella, Salvatrice Antonia ^aa   Tanzariello, Salvatrice Antonella ^ab   Voglino, Gianfranco ^ac   Lenzini, Elisabetta ^ad   Besozzi, Marco ^a   Larizza, Lidia ^a,ae   Dalpra, Leda ^b,af   more..

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UO Anatomia Patologica   (Italy)

^c GALLIERA HOSPITAL   (Italy)

^d Laboratory of Medical Genetics   (Italy)

^e Chirurgia Maxillo Facciale   (Italy)

^f Lab Citogenetica e Genet Mol   (Italy)

^g Dip Med Lab   (Italy)

^h MOLINETTE HOSPITAL   (Italy)

ⁱ SS Citogenetica   (Italy)

^j Osp Circolo   (Italy)

^k CAREGGI UNIVERSITY HOSPITAL   (Italy)

^l Lab Genetica Medica   (Italy)

^m UOC Genetica Medica   (Italy)

ⁿ INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^o Dip Med Lab   (Italy)

^p Sarmeola di Rubano ^*  (Italy)

^q Laboratorio Mendel Genetica Medica SRL   (Italy)

^r S G MOSCATI HOSPITAL   (Italy)

^s OIRM S Anna   (Italy)

^t AO Vimercate PO Sesto S Giovanni   (Italy)

^u Aosta Hospital   (Italy)

^v Centro Regionale di Riferimento per la Malattia Diabetica   (Italy)

^w Un Studi Milano   (Italy)

^x Un Studi   (Italy)

^y Lab Analisi   (Italy)

^z Ospedale Civile   (Italy)

^aa AO V Cervello   (Italy)

^ab Osp Infermi   (Italy)

^ac Lab Genetica Molecolare e Citogenetica Promea   (Italy)

^ad Dip Pediatria   (Italy)

^ae Un Studi Milano   (Italy)

^af UNIVERSITY OF MILANO BICOCCA   (Italy)

more..

Author keywords

Breakpoints distribution; De novo balanced rearrangements; Fragile sites; Prenatal diagnosis

Indexed keywords

AMNION FLUID ANALYSIS; ARTICLE; CHORION VILLUS SAMPLING; CHROMOSOME 11; CHROMOSOME 21; CHROMOSOME 22; CHROMOSOME 3; CHROMOSOME 7; CHROMOSOME 9; CHROMOSOME ANALYSIS; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; FEMALE; FETUS; FETUS BLOOD; HUMAN; MAJOR CLINICAL STUDY; MALE; PREGNANCY OUTCOME; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUESTIONNAIRE; RECIPROCAL CHROMOSOME TRANSLOCATION; ROBERTSONIAN CHROMOSOME TRANSLOCATION;

AMNIOTIC FLUID; CHORIONIC VILLI SAMPLING; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DATA COLLECTION; FEMALE; HUMANS; ITALY; KARYOTYPING; MALE; PREGNANCY; PRENATAL DIAGNOSIS;

ROBERTSONIA;

EID: 61449229325     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2215     Document Type: Article

References (21)

1. Aguilera A, Gomez-Gonzalez B. 2008. Genome instability: a mechanistic view of its causes and consequences. Nat Rev Genet 9: 204-217.
2. Bailey JA, Gu Z, Clark RA, et al. 2002. Recent segmental duplications in the human genome. Science 297: 1003-1007.
3. Baptista J, Mercer C, Prigmore E, et al. 2008. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet 82: 927-936.
4. Dalpra L, Giardino D, Finelli P, et al. 2005. Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories. Genet Med 7: 620-625.
5. De Gregori M, Ciccone R, Magini P, et al. 2007. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 44: 750-762.
6. Debacker K, Kooy F. 2007. Fragiles sites and human disease. Hum Mol Genet 16: 150-158.
7. DeScipio C, Spinner NB, Kaur M, et al. 2008. Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. Am J Med Genet 146A: 730-739.
8. Diagnostica Citogenetica, Consensus. 1995. Associazione Italiana di citogenetica medica. Analysis 8.
9. EUCROMIC Quality Assessment Group. 1997. Quality guide-lines and standards for genetic laboratories/clinics in prenatal diagnosis on fetal samples obtained by invasive procedures. Eur J Hum Genet 5: 342-350.
10. Giardino D, Corti C, Ballarati L, et al. 2006. Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs. Prenat Diagn 26: 565-570.
11. Kato T, Inagaki H, Kogo H, et al. 2008. Two different forms of palindrome resolution in the human genome: deletion or translocation. Hum Mol Genet 17: 1184-1191.
12. Ledbetter DH, Zachary JM, Simpson JL, et al. 1992. Cytogenetic. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn 12: 317-345.
13. Mitelman F. 1995. An International System for Human Cytogenetic Nomenclature (ISCN).S.Karger: Basel.
14. Peng HH, Chao AS, Wang TH, Chang YL, Chang SD. 2006. Prenatally diagnosed balanced chromosome rearrangements: eight years' experience. J Reprod Med 51: 699-703.
15. Shaffer LG, Tommerup N. 2005. An International System for Human Cytogenetic Nomenclature (ISCN).S.Karger:Basel.
16. Stankiewicz P, Lupski JR. 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet 18: 74-82.
17. Therman E, Susman B, Denniston C. 1989. The nonrandom participation of human acrocentric chromosomes in Robertsonian translo-cations. Ann Hum Genet 53: 49-65.
18. UCSC Genome Browser website. http://genome.ucsc.edu/.
19. Van den Veyver IB, Beaudet AL. 2006. Comparative genomic hybridization and prenatal diagnosis. Curr Opin Obstet Gynecol 18: 185-191.
20. Warburton D. 1991. de novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49: 995-1013. de novo.
21. Zhang L, Lu HHS, Chung W, Yang J, Li W. 2005. Patterns of segmental duplication in the human genome. MolBiolEvol22: 135-141.