Molecular characterization of 39 de novo sSMC: Contribution to prognosis and genetic counselling, a prospective study

Clinical Genetics

Volumn 85, Issue 3, 2014, Pages 233-244

  Marle, N ^a   Martinet, D ^b   Aboura, A ^c   Joly Helas, G ^d   Andrieux, J ^e   Flori, E ^f   Puechberty, J ^g   Vialard, F ^h   Sanlaville, D ⁱ   Fert Ferrer, S ^j   Bourrouillou, G ^k   Tabet, A C ^c   Quilichini, B ^l   Simon Bouy, B ^h   Bazin, A ^m   Becker, M ^l   Stora, H ⁿ   Amblard, S ^o   Doco Fenzy, M ^p   Molina Gomes, D ^h   Girard Lemaire, F ^f   Cordier, M P ⁱ   Satre, V ^o   Schneider, A ^g   Lemeur, N ^q   Chambon, P ^e   Jacquemont, S ^b   Fellmann, F ^b   Vigouroux Castera, A ^k   Molignier, R ^k   Delaye, A ^c   Pipiras, E ^c   Liquier, A ^r   Rousseau, T ^s   Mosca, A L ^a   Kremer, V ^f   Payet, M ^a   Rangon, C ^a   Mugneret, F ^a   Aho, S ^s   Faivre, L ^a   Callier, P ^a   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d ROUEN UNIVERSITY HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f HÔPITAL DE HAUTEPIERRE   (France)

^g MONTPELLIER UNIVERSITY HOSPITAL   (France)

^h Lab de Cytogenetique H   (France)

ⁱ HOSPICES CIVILS DE LYON   (France)

^j CHU   (France)

^k CHU PURPAN   (France)

^l Laboratoire Biomnis   (France)

^m Lab Cytogenetique Hop Hotel Dieu   (France)

ⁿ Laboratoire Cytogénétique Genazur   (France)

^o Service de Génétique Médicale   (France)

^p Service de Génétique Médicale   (France)

^q Laboratory of Histocompatibility   (France)

^r Laboratoire de Cytogenetique BIOffice   (France)

^s HÔPITAL DU BOCAGE   (France)

more..

Author keywords

Array CGH; de novo sSMC; Genotype phenotype correlation; Prenatal diagnosis; Small supernumerary chromosome marker

Indexed keywords

ACROCENTRIC CHROMOSOME; ADULT; ARTICLE; CHROMOSOME ABERRATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EUCHROMATIN; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRANCE; GENETIC COUNSELING; HUMAN; MARKER CHROMOSOME; MICROSATELLITE MARKER; MIDDLE AGED; MOLECULAR BIOLOGY; MOSAICISM; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; PROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; SMALL SUPERNUMERARY MARKER CHROMOSOME; SWITZERLAND; UNIPARENTAL DISOMY; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC PREDISPOSITION; KARYOTYPE; PREGNANCY; RISK; YOUNG ADULT;

GENETIC MARKER;

ADULT; CHROMOSOME ABERRATIONS; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FRANCE; GENETIC ASSOCIATION STUDIES; GENETIC COUNSELING; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; PROGNOSIS; PROSPECTIVE STUDIES; RISK; SWITZERLAND; YOUNG ADULT;

EID: 84892995627     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12138     Document Type: Article

References (42)

1. Michalski K, Rauer M, Williamson N, Perszyk A, Hoo JJ. Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes. Am J Med Genet 1993: 46: 88-94.
2. Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 2007: 19: 719-731.
3. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991: 49: 995-1013.
4. Crolla JA. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 1998: 75: 367-381.
5. Starke H, Nietzel A, Weise A et al. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 2003: 114: 51-67.
6. Cotter PD, Drexler K, Corley AL et al. Prenatal diagnosis of minute supernumerary marker chromosomes. Gynecol Obstet Invest 2005: 60: 27-38.
7. Kowalczyk M, Srebniak M, Tomaszewska A. Chromosome abnormalities without phenotypic consequences. J Appl Genet 2007: 48: 157-166.
8. Speicher MR, Gwyn Ballard S, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 1996: 12: 368-375.
9. Schrock E, du Manoir S, Veldman T et al. Multicolor spectral karyotyping of human chromosomes. Science 1996: 273: 494-497.
10. Liehr T, Heller A, Starke H et al. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 2002: 9: 335-339.
11. Weise A, Starke H, Heller A et al. Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet 2002: 39: 434-439.
12. Nietzel A, Rocchi M, Starke H et al. A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 2001: 108: 199-204.
13. Liehr T, Utine GE, Trautmann U et al. Neocentric small supernumerary marker chromosomes (sSMC)-three more cases and review of the literature. Cytogenet Genome Res 2007: 118: 31-37.
14. Reddy KS, Aradhya S, Meck J et al. A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity. Genet Med 2013: 15: 3-13.
15. Kogan JM, Miller E, Ware SM. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet A 2009: 149A: 887-893.
16. Ballif BC, Hornor SA, Sulpizio SG et al. Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. Genet Med 2007: 9: 150-162.
17. Pietrzak J, Mrasek K, Obersztyn E et al. Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. J Appl Genet 2007: 48: 167-175.
18. Tsuchiya KD, Opheim KE, Hannibal MC et al. Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol Cytogenet 2008: 1: 7.
19. Murthy SK, Malhotra AK, Jacob PS et al. Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report. Mol Cytogenet 2008: 1: 19.
20. Liehr T, Mrasek K, Weise A et al. Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation. Cytogenet Genome Res 2006: 112: 23-34.
21. Wang NJ, Liu D, Parokonny AS, Schanen NC. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 2004: 75: 267-281.
22. Shaw CJ, Stankiewicz P, Bien-Willner G et al. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet 2004: 115: 1-7.
23. Huang B, Pearle P, Rauen KA, Cotter PD. Supernumerary marker chromosomes derived from chromosome 6: cytogenetic, molecular cytogenetic, and array CGH characterization. Am J Med Genet A 2012: 158A: 1568-1573.
24. Li P, Pomianowski P, DiMaio MS et al. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. Am J Med Genet A 2011: 155A: 1605-1615.
25. Liehr T, Ewers E, Kosyakova N et al. Handling small supernumerary marker chromosomes in prenatal diagnostics. Expert Rev Mol Diagn 2009: 9: 317-324.
26. Sung PL, Chang SP, Wen KC et al. Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype. Am J Med Genet A 2009: 149A: 2768-2774.
27. Eckmann-Scholz C, Tonnies H, Liehr T et al. Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18 - how to counsel? J Matern Fetal Neonatal Med 2012: 25: 200-202.
28. Melo JB, Matoso E, Polityko A et al. Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation. Cytogenet Genome Res 2009: 125: 109-114.
29. Callier P, Faivre L, Thauvin-Robinet C et al. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am J Med Genet A 2008: 146A: 2109-2115.
30. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet 2008: 82: 398-410.
31. Sheth F, Andrieux J, Ewers E et al. Characterization of sSMC by FISH and molecular techniques. Eur J Med Genet 2011: 54: 247-255.
32. Manolakos E, Kefalas K, Neroutsou R et al. Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization. Mol Med Rep 2010: 3: 1015-1022.
33. Kotzot D. Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence? J Med Genet 2002: 39: 775-778.
34. Gruchy N, Lebrun M, Herlicoviez M et al. Supernumerary marker chromosomes management in prenatal diagnosis. Am J Med Genet A 2008: 146A: 2770-2776.
35. Callier P, Faivre L, Marle N et al. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia. Am J Med Genet A 2009: 149A: 1323-1326.
36. Viersbach R, Engels H, Gamerdinger U, Hansmann M. Delineation of supernumerary marker chromosomes in 38 patients. Am J Med Genet 1998: 76: 351-358.
37. Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML, Hickmann G. Forty-two supernumerary marker chromosomes (SMCs) in 43, 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. Eur J Hum Genet 2005: 13: 1192-1204.
38. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S. Supernumerary marker chromosomes detected in 100, 000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenat Diagn 2006: 26: 1142-1150.
39. Lee CN, Lin SY, Lin CH et al. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2006: 119: 1282.
40. de Vries BB, Pfundt R, Leisink M et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005: 77: 606-616.
41. Graf MD, Christ L, Mascarello JT et al. Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J Med Genet 2006: 43: 660-664.
42. Crolla JA, Youings SA, Ennis S, Jacobs PA. Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. Eur J Hum Genet 2005: 13: 154-160.