Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 437-445

  Leclercq, Sandrine ^a   Maincent, Kim ^b   Baverel, Françoise ^a   Le Tessier, Dominique ^a   Letourneur, Franck ^a   Lebbar, Aziza ^a   Dupont, Jean Michel ^a  

^a Groupe Hospitalier Cochin Saint Vincent de Paul ^*  (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Inverted duplication; NAHR; Trisomy 20p; U type exchange

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME 20P; CHROMOSOME ABERRATION; CHROMOSOME ARM; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME NUMBER; CHROMOSOME REARRANGEMENT; CHROMOSOME SIZE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE DELETION; GENE DUPLICATION; GENETIC TRAIT; HOMOLOGOUS RECOMBINATION; HUMAN; KARYOTYPING; MALE; MEIOSIS; MOLECULAR GENETICS; OLFACTORY RECEPTOR; PLAGIOCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; TRISOMY; TRISOMY 20P;

CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; CHROMOSOME DISORDERS; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 20; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FLUORESCENT DYES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INDOLES; INFANT; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MENTAL RETARDATION; MODELS, GENETIC; NUCLEIC ACID HYBRIDIZATION; RECOMBINATION, GENETIC; TRISOMY;

EID: 61749088568     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32640     Document Type: Article

References (67)

1. Adeyinka A, Adams SA, Lorentz CP, Van Dyke DL, Jalal SM. 2005. Subtelomere deletions and translocations are frequently familial. Am J Med Genet Part A 135A:28-35.
2. Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, Chaki R, Barkai G, Frydman M, Rehder H. 2000. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am J Med Genet 91:74-82.
3. Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E. 2002. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107:285-293.
4. Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. 2003. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12:2153-2165.
5. Bansal V, Bashir A, Bafna V. 2007. Evidence for large inversion polymorphisms in the human genome from HapMap data. Genome Res 17:219-230.
6. Beaujard MP, Jouannic JM, Bessieres B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoi MF. 2005. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Prenat Diagn 25:451-455.
7. Belin V, Farhat M, Monset-Couchard M. 1999. Intracytoplasmic sperm injection pregnancy with trisomy 20p and monosomy 22q in a newborn resulting from a balanced paternal translocation. Biol Neonate 75:398-401.
8. Bonaglia MC, Giorda R, Poggi G, Raggi ME, Rossi E, Baroncini A, Giglio S, Borgatti R, Zuffardi O. 2000. Inverted duplications are recurrent rearrangements always associated with a distal deletion: Description of a new case involving 2q. Eur J Hum Genet 8:597-603.
9. Bown N, Cross I, Davison EV, Burn J. 1986. Partial trisomy 20p resulting from a recombination of a familial pericentric inversion. Hum Genet 74:417-419.
10. Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, Wieczorek D, Propping P, Gillessen-Kaesbach G, Weber RG, Engels H. 2007. Towards mapping phenotypical traits in 18p-syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet 15:35-44.
11. Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attie-Bitach T, Romana S, Chaabouni H. 2007. De novo trisomy 20p of paternal origin. Am J Med Genet Part A 143A:1100-1103.
12. Chen CP, Chern SR, Lin SP, Lin CC, Li YC, Wang TH, Lee CC, Pan CW, Hsieh LJ, Wang W. 2005. A paternally derived inverted duplication of distal 14q with a terminal 14q deletion. Am J Med Genet Part A 139A:146-150.
13. Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K. 2001. Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am J Med Genet 102:76-80.
14. Courtens W, Grossman D, Van Roy N, Messiaen L, Vamos E, Toppet V, Haumont D, Streydio C, Jauch A, Vermeesch JR, Speleman F. 1998. Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion. Hum Genet 103:497-505.
15. Das S, Boczan J, Gerwin C, Zald PB, Sheng ZH. 2003. Regional and developmental regulation of syntaphilin expression in the brain: A candidate molecular element of synaptic functional differentiation. Brain Res Mol Brain Res 116:38-49.
16. De Brasi D, Rossi E, Giglio S, D'Agostino A, Titomanlio L, Farina V, Andria G, Sebastio G. 2001. Inv dup del (1)(pter- > q44::q44 - > q42:) with the classical phenotype of trisomy 1q42-qter. AmJ Med Genet 104:127-130.
17. Dupont C, Lebbar A, Teinturier C, Baverel F, Viot G, Le Tessier D, Le Bozec J, Cuisset L, Dupont JM. 2007. First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation. Am J Med Genet Part A 143A:1236-1243.
18. Eckert C, Olinsky S, Cummins J, Stephan D, Narayanan V. 1997. Mapping of the human P84 gene to the subtelomeric region of chromosome 20p. Somat Cell Mol Genet 23:297-301.
19. Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. 2002. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 111:290-296.
20. Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalpra L, Wood S, Danesino C, Zuffardi O. 1996. The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 58:785-796.
21. Fryns JP, Kleczkowska A, Decock P, Massa G, van den Berghe H. 1992. 46,XX/46,XX,del(20)(pter → p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit. Ann Genet 35:234-236.
22. Funderburk SJ, Sparkes RS, Sparkes MC. 1983. Trisomy 20p due to a paternal reciprocal translocation. Ann Genet 26:94-97.
23. Genesio R, De Brasi D, Conti A, Borghese A, Di Micco P, Di Costanzo P, Paladini D, Ungaro P, Nitsch L. 2004. Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype. Am J Med Genet Part A 128A:422-428.
24. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
25. Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G. 1992. 20 p duplication as a result of parental translocation: Familial case report and a contribution to the clinical delineation of the syndrome. Clin Genet 41:285-289.
26. Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoi MF. 2007. Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter. Am J Med Genet Part A 143A:2417-2422.
27. Hoo JJ, Chao M, Szego K, Rauer M, Echiverri SC, Harris C. 1995. Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin. Am J Med Genet 58:299-304.
28. Jenderny J, Poetsch M, Hoeltzenbein M, Friedrich U, Jauch A. 1998. Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? Eur J Hum Genet 6:439-444.
29. Kennedy D, Silver MM, Winsor EJ, Toi A, Provias J, Macha M, Precht K, Ledbetter DH, Chitayat D. 2000. Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. Am J Med Genet 91:167-170.
30. Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K. 2007. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet 15:548-555.
31. Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Inv dup del(4)(:p14 - > p16.3::p16.3 - > qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. Am J Med Genet Part A 120A:123-126.
32. Lao G, Scheuss V, Gerwin CM, Su Q, Mochida S, Rettig J, Sheng ZH. 2000. Syntaphilin: A syntaxin-1 clamp that controls SNARE assembly. Neuron 25:191-201.
33. LeChien KA, McPherson E, Estop AM. 1994. Duplication 20p identified via fluorescent in situ hybridization. Am J Med Genet 50:187-189.
34. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. 1997. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16:243-251.
35. Lucas J, Le Mée F, Le Marec B, Pluquailec K, Journel H, Picard F. 1985. Trisomy 20p derived from a maternal pericentric inversion and brachymesophalangy of the index finger. Ann Genet 28:167-171.
36. Lurie IW, Rumyantseva NV, Zaletajev DV, Gurevich DB, Korotkova IA. 1985. Trisomy 20p: Case report and genetic review. J Genet Hum 33:67-75.
37. Marcus ES, Fuller B, Riccardi VM. 1979. Triplication of chromosome arm 20p due to inherited translocation and secondary nondisjunction. Am J Med Genet 4:47-50.
38. Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J. 1994. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. Am J Med Genet 52:178-183.
39. Milunsky J, Huang XL, Wyandt HE, Milunsky A. 1999. Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet 55:455-460.
40. Mitchell JJ, Vekemans M, Luscombe S, Hayden M, Weber B, Richter A, Sparkes R, Kojis T, Watters G, Der Kaloustian VM. 1994. U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Am J Med Genet 49:384-387.
41. Molina-Gomes D, Nebout V, Daikha-Dahmane F, Vialard F, Ville Y, Selva J. 2006. Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: Case report of a prenatal diagnosis by chorionic villus sampling. Prenat Diagn 26:239-241.
42. Moog U, Engelen J, Albrechts J, Hoorntje T, Hendrikse F, Schrander-Stumpel C. 1996. Alagille syndrome in a family with duplication 20p11. Clin Dysmorphol 5:279-288.
43. Morrissette JJ, Medne L, Bentley T, Owens NL, Geiger E, Pipan M, Zackai EH, Shaikh T, Spinner NB. 2005. A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage. Am J Med Genet Part A 137A:208-212.
44. Nakanishi K, Ida M, Suzuki H, Kitano C, Yamamoto A, Mori N, Araki M, Taketani S. 2006. Molecular characterization of a transport vesicle protein Neurensin-2, a homologue of Neurensin-1, expressed in neural cells. Brain Res 1081:1-8.
45. Oppenheimer S, Dignan P, Soukup S. 2000. Partial trisomy 20p: Familial occurrence. Am J Med Genet 95:316-319.
46. Pangalos C, Theophile D, Sinet PM, Marks A, Stamboulieh-Abazis D, Chettouh Z, Prieur M, Verellen C, Rethore MO, Lejeune J, et al. 1992. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21. Am J Hum Genet 51:1240-1250.
47. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478-489.
48. Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta C, Mattina T, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. 2008. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. J Med Genet 45:147-154.
49. Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B. 2003. Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]. Am J Med Genet Part A 120A:533-536.
50. Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2004. Molecular characterization of inv dup del (8p): Analysis of five cases. Am J Med Genet Part A 128A:133-137.
51. Sidwell RU, Pinson MP, Gibbons B, Byatt SA, Svennevik EC, Hastings RJ, Flynn DM. 2000. Pure trisomy 20p resulting from isochromosome formation and whole arm translocation. J Med Genet 37:454-458.
52. Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J. 1999. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. Am J Med Genet 86:264-268.
53. Stetten G, Charity LL, Kasch LM, Scott AF, Berman CL, Pressman E, Blakemore KJ. 1997. A paternally derived inverted duplication of 7q with evidence of a telomeric deletion. Am J Med Genet 68:76-81.
54. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 82:238-244.
55. Taylor KM, Wolfinger HL, Brown MG, Chadwick DL, Francke U. 1976. Partial trisomy 20p derived from a t(18;20) translocation. Hum Genet 34:155-162.
56. Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL. 1993. Molecular and cytogenetic characterization of 9p- abnormalities. Am J Med Genet 46:288-292.
57. Thangavelu M, Frolich G, Rogers D. 2004. Partial duplication 2p as the sole abnormality in two cases with anencephaly. Am J Med Genet Part A 124A:170-172.
58. Thomas MA, Duncan AM, Bardin C, Kaloustian VM. 2004. Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. Am J Med Genet Part A 124A:292-295.
59. Tonk VS, Wilson GN, Yatsenko SA, Stankiewicz P, Lupski JR, Schutt RC, Northup JK, Velagaleti GV. 2005. Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype. Am J Med Genet Part A 139A:136-140.
60. Tümer Z, Berg A, Mikkelsen M. 1995. Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: Detection of a break in the centromeric alpha-satellite sequences. Hum Genet 95:299-302.
61. Vamos E, Pratola D, Van Regemorter N, Freund M, Flament-Durand J, Rodesch F. 1985. Prenatal diagnosis and fetal pathology of partial trisomy 20P-monosomy 4P resulting from paternal translocation. Prenat Diagn 5:209-214.
62. Van Buggenhout G, Maas NM, Fryns JP, Vermeesch JR. 2004. A dysmorphic boy with 4qter deletion and 4q32. 3-34. 3 duplication: Clinical, cytogenetic, and molecular findings. Am J Med Genet Part A 131A:186-189.
63. Vermeesch JR, Thoelen R, Salden I, Raes M, Matthijs G, Fryns JP. 2003. Mosaicism del (8p) inv dup/(8p) in a dysmorphic female infant: A mosaic formed by a meiotic error at the 8p OR gene, and an independent terminal deletion event. Med Genet J 40:e93.
64. Weleber RG, Verma RS, Kimberling WJ, Fieger HG Jr, lubs HA. 1976. Duplication-deficiency of the short arm of chromosome 8 following artificial insemination. Ann Genet 19:241-247.
65. Wieczorek D, Bartsch O, Gillessen-Kaesbach G. 2003. Distal monosomy 18p/distal trisomy 20p - A recognizable facial phenotype? Am J Med Genet Part A 120A:429-433.
66. Zou YS, Van Dyke DL, Thorland EC, Chhabra HS, Michels VV, Keefe JG, Lega MA, Feely MA, Uphoff TS, Jalal SM. 2006. Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review. Am J Med Genet Part A 140A:1696-1706.
67. Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante A, de Torres ML, López Pajares I. 1989. Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review. Ann Genet 32:247-249.