Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter

American Journal of Medical Genetics, Part A

Volumn 149, Issue 11, 2009, Pages 2507-2512

  Tirado, Carlos A ^a   Henderson, Samuel ^a   Uddin, Naseem ^a   Stewart, Ewa ^b   Iyer, Santha ^a   Ratner, Ian M ^b   Matthews, Erin ^a   Doolittle, Jeffrey ^a   Garcia, Rolando ^a   Valdez, Federico ^a   Dallaire, Stephanie ^d   Appleberry, Taylor ^d   Payne, Deborah ^c   Collins, Robert ^c  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b CHILDREN S MEDICAL CENTER   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d PERKINELMER INC   (United States)

Author keywords

CGH; FISH; Inverted duplication 2p; Partial trisomy 2; Terminal deletion 2pter

Indexed keywords

BARIUM;

ARTICLE; BIRTH WEIGHT; CASE REPORT; CHROMOSOME 2P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CYTOGENETICS; ECHOCARDIOGRAPHY; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROINTESTINAL SYMPTOM; GENETIC TRAIT; GESTATIONAL AGE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART RIGHT VENTRICLE HYPERTROPHY; HUMAN; HYDRONEPHROSIS; HYPERTELORISM; INFANT; LONG TERM CARE; MICROCEPHALY; OXYGEN SATURATION; PARTIAL TRISOMY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROGNOSIS; PULMONARY HYPERTENSION; PULMONARY VALVE STENOSIS; SUCKING; SYSTOLIC HEART MURMUR;

CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; FATAL OUTCOME; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; PREGNANCY; TRISOMY;

EID: 70449377361     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33080     Document Type: Article

References (21)

1. Al-Saffar M, Lemyre R, Duncan Am, Der Kaloustian VM. 2000. Phenotype of a patient with pure partial trisomy 2p(p23-pter). Am J Med Genet 94:428-432.
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 paraffinembedded tissue. Am J Med Genet 91:74-82. (Pubitemid 30127564)
3. Barch MJ, Knusten T, Sprubeck JL. 1997. The AGT cytogenetics laboratory manual, 3rd edition. New York: Raven Press.
4. Bonaglia MC, Giorda R, Poggi G, raggi ME, Barocini 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.
5. Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Roberto Ciccone R, Zuffardi O. 2009. A familial inverted duplication/deletion of 2p25.1-25. 3 provides new clues on the genesis of inverted duplications. Eur J Hum Genet 17:179-186.
6. 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. Am J Med Genet 104:127-130. (Pubitemid 33062937)
7. Floridia G, Piantadina 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. (Pubitemid 26086670)
8. Francke U. 1978. Clinical syndromes associated with partial duplications of chromosomes 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. Am J Dis Child 130:1244-1249.
9. Francke U, Jones KL. 1976. The 2p partial trisomy syndrome. Am J Dis Child 130:1244-1249.
10. Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O. 2000. Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects. Circulation 102:432-437. (Pubitemid 30490682)
11. Gorinati M, Caufin D, Minelli A, Memo L, Gaspardo G, Dodero A. 1991. Inv dup(8)(p21.1-22.1): further case report and a new hypothesis on the origin of the chromosome abnormality. Clin Genet 39:55-59.
12. Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï 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. (Pubitemid 47511933)
13. Liehr T, Stumm M, Wegner RD, Bhatt S, Hickman P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A. 2009. 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Res 124:102-105.
14. Lurie IW, Ilyna HG, Gurevich DB, Rumyantseva NV, Naumchick IV, Castellan C, Hoeller A, Schinzel A. 1995. Trisomy 2p:analysis of unusual phenotypic findings. Am J Med Genet 55:229-236.
15. Rowe LR, Lee J-Y, Lyndsey Rector L, Kaminsky EB, Brothman AR, Martin CL, South ST. 2009. U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet Online 16 Mar 2009. 10.1136/jmg.2008. 065052 [Epub ahead of print].
16. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. 2nd edition. Berlin, New York: De Gryter. p. 91-101.
17. Shaffer LG, Tommerup N. 2005. ISCN 2005: An international system for human cytogenetic nomenclature. Basel: S. Karger.
18. Shaffer LG, Lupski JR. 2000. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Ann Rev Genet 34:297-329.
19. Shaw CJ, Lupski JR. 2004. Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum Mol Genet 13:57-64.
20. Thangavelu M, Frolich G, Rogers D. 2004. Partial duplication 2p as the sole abnormality in two cases with anencephaly. Am J Med Genet A 124A:170-172. (Pubitemid 38036591)
21. Weleber RG, Verma RS, Kimberling WJ, Fieger HG, Lubs HA. 1976. Duplication-deficiency of the short arm of chromosome 8 following artificial insemination. Ann Genet 19:241-247.