Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 821-827

  Laus, Ana C ^a   Baratela, Wagner A R ^a   Laureano, Lucimar A F ^a   Santos, Silvio A ^a   Huber, Jair ^a   Ramos, Ester S ^a   Rebelo, Camila C ^a   Squire, Jeremy A ^b   Martelli, Lucia ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b QUEEN S UNIVERSITY   (Canada)

Author keywords

Karyotype phenotype correlation; SKY; SMC; Trisomy 16q

Indexed keywords

AMBIGUOUS GENITALIA; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME 16; CHROMOSOME 16Q; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CLINICAL EVALUATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; CYSTOGRAPHY; ECHOCARDIOGRAPHY; ENTEROCOLITIS; EPIDURAL HEMATOMA; FALLOT TETRALOGY; FETUS DISTRESS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; GESTATION PERIOD; HUMAN; INFANT; INTESTINE RESECTION; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MALE; MARKER CHROMOSOME; MICROCEPHALY; MOLECULAR DIAGNOSIS; NEWBORN; PARTIAL TRISOMY; PARTIAL TRISOMY 16Q13; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SPECTRAL KARYOTYPING; VESICOURETERAL REFLUX;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 16; DISORDERS OF SEX DEVELOPMENT; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; KARYOTYPE; MALE; MICROCEPHALY; PHENOTYPE; TRISOMY;

EID: 84858999819     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32988     Document Type: Article

References (45)

1. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. 2008. Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet 82: 398-410.
2. Balestrazzi P, Giovannelli G, Landucci Rubini L, Dallapiccola B. 1979. Partial trisomy 16q resulting from maternal translocation. Hum Genet 49: 229-235.
3. Barber JC, Zhang S, Friend N, Collins AL, Maloney VK, Hastings R, Farren B, Barnicoat A, Polityko AD, Rumyantseva NV, Starke H, Ye S. 2006. Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Cytogenet Genome Res 114: 351-358.
4. Battaglia A. 2005. The inv dup(15) or idic(15) syndrome: A clinically recognizable neurogenetic disorder. Brain Dev 27: 365-369.
5. Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP. 2002. Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature. Am J Med Genet 113: 339-345.
6. Buckton KE, Barr DG. 1981. Partial trisomy for long arm of chromosome 16. J Med Genet 18: 483.
7. Calva P, Frias S, Carnevale A, Reyes P. 1984. Partial trisomy 16q resulting from maternal translocation 11p/16q. Ann Genet 27: 122-125.
8. Chen CP, Lee CC, Wang W. 2004. Prenatal diagnosis of complete trisomy 16q in two consecutive pregnancies. Prenat Diagn 24: 1019-1020.
9. Chen CP, Lin SP, Lin CC, Li YC, Chern SR, Chen WM, Lee CC, Hsieh LJ, Wang W. 2005a. Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1→qter) and partial monosomy 20q (20q13.3→qter). Prenat Diagn 25: 112-118.
10. Chen CP, Hsu CY, Huang JK, Lee CC, Chen WL, Wang W. 2005b. Prenatal diagnosis of partial trisomy 16q and distal 22q13 deletion associated with dolichocephaly and frontal bossing on second-trimester ultrasound. Prenat Diagn 25: 964-966.
11. Crolla JA. 1998. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 75: 367-381.
12. Davison EV, Beesley JR. 1984. Partial trisomy 16 as a result of familial 16;20 translocation. J Med Genet 21: 384-386.
13. Dennis NR, Veltman MWM, Thompson R, Craig E, Bolton PF, Thomas NS. 2006. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet Part A 140A: 434-441.
14. Dowman C, Lockwood D, Allanson J. 1989. Familial translocation t(9;16). J Med Genet 26: 525-528.
15. Eiben B, Trawicki W, Hammans W, Goebel R, Pruggmayer M, Epplen JT. 1999. Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of >3, 000 cases. Fetal Diagn Ther 14: 193-197.
16. Engelen JJ, De Die-Smulders CE, Vos PT, Meers LE, Albrechts JC, Hamers AJ. 1999. Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature. Ann Genet 42: 101-104.
17. Fritz B, Dietze I, Wandall A, Aslan M, Schmidt A, Kattner E, Schwerdtfeger R, Friedrich U. 2001. A supernumerary marker chromosome with a neocentromere derived from 5p14→pter. J Med Genet 38: 559-565.
18. Fryns JP, Kleczkowska A, Decock P, Van den Berghe H. 1990. Direct duplication 16q11.1-16q13 is not associated with a typical dysmorphic syndrome. Ann Genet 33: 46-48.
19. Garau A, Crisponi G, Peretti D, Vanni R, Zuffardi O. 1980. Trisomy 16q21=to qter. Hum Genet 53: 165-167.
20. Gardner RJM, Sutherland GR. 2004. Autosomal reciprocal translocations. In: Chromosome Abnormalities and Genetic Counseling, 3e. New York: Oxford University Press, Inc. pp 59-97.
21. Giardino D, Finelli P, Gottardi G, Clerici D, Mosca F, Briscioli V, Larizza L. 2001. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child. Eur J Hum Genet 9: 881-886.
22. Hahm SY, Chitayat D, Iqbal MA, Cho S, Nitowsky HM. 1987. Partial duplication 16q: Report of two affected siblings resulting from a maternal translocation and literature review. Clin Genet 31: 343-348.
23. Hatanaka K, Ozaki M, Suzuki M, Murata R, Fujita H. 1984. Trisomy 16q13→qter in a infant from a t(11;16)(q25;q13) translocation-carrier father. Hum Genet 65: 311-315.
24. Hirai S, Ujüe J, Suzuki J, Ishiyama S, Tsukanishi A, Muramoto J, Kano H, Suzuki H. 1981. Duplication of the long arm of chromosome 16. Jpn J Pédiatr 34: 1963-1967.
25. Houlston RS, Renshaw RM, James RS, Ironton R, Temple IK. 1994. Duplication of 16q22→qter confirmed by fluorescence in situ hybridisation and molecular analysis. J Med Genet 31: 884-887.
26. Jalal SM, Day DW, Garcia M, Benjamin T, Rogers J. 1989. Familial transmission of 16p trisomy in an infant. Hum Genet 81: 196-198.
27. Leonard C, Huret JL, Imbert MC, Lebouc Y, Rogers J. 1992. Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature. Am J Med Genet 43: 621-625.
28. Léonard C, Huret JL, Imbert MC, Lebouc Y, Selva J, Boulley AM. 1992. Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature. Am J Med Genet 43: 621-625.
29. Lessick ML, Israel J, Wong PW, Szego K. 1989. Partial trisomy 16q secondary to a maternal 9;16 translocation. J Med Genet 26: 63-64.
30. Magnelli NC. 1976. Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects. Madison blind study IV. Clin Genet 9: 169-182.
31. Maher ER, Willatt L, Cuthbert G, Chapman C, Hodgson SV. 1991. Three cases of 16q duplication. J Med Genet 28: 801-802.
32. Masuno M, Ishii T, Tanaka Y, Ohyama M, Kawataki M, Kimura J, Imaizumi K, Kuroki Y. 2000. De novo trisomy 16p11.2-qter: Report of an infant. Am J Med Genet 92: 308-310.
33. Nevin NC, Coffey WW, Nevin J, Reid MM. 1983. Partial trisomy 16q in two boys resulting from a maternal translocation, t(15;16)(p12;q11). Clin Genet 24: 375-379.
34. Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K. 1989. Duplication of 16q and deletion of 15q. Am J Med Genet 34: 183-186.
35. Paladini D, D'Agostino A, Liguori M, Teodoro A, Tartaglione A, Colombari S, Martinelli P. 1999. Prenatal findings in trisomy 16q of paternal origin. Prenat Diagn 19: 472-475.
36. Rethoré MO, Lafourcade J, Couturier J, Harpey JP, Hamet M, Engler R, Alcindor LG, Lejeune J. 1982. Increased activity of adenine phosphoribosyl transferase in a child trisomic for 16q22.2 to 16qter due to malsegregation of a t(16;21) (q22.2;q22;2)pat. Ann Genet 25: 36-42.
37. Ridler MA, McKeown JA. 1979. Trisomy 16q arising from a maternal 15p;16q translocation. J Med Genet 16: 317-320.
38. Rochat MK, Riegel M, Schinzel AA. 2007. Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review. Am J Med Genet Part A 143A: 399-408.
39. Schinzel A. 2001. Chromosome 15. In: Catalogue of unbalanced chromosome aberrations in man. 2e. Berlin and New York: Walter de Gruyter. pp 647-648.
40. Schinzel A, Brevevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. 1994. Intrachromosomal triplication of 15q11-q13. J Med Genet 31: 798-803.
41. Schmickel R, Poznanski A, Himebaugh J. 1975. 16q trisomy in a family with a balanced 15/16 translocation. Birth Defects Orig Artic Ser 11: 229-236.
42. Sousa B, Rocha G, Doria S, Alves JR, Guedes B, Guimarães H. 2004. New findings in partial trisomy 16q: Clinical report. Acta Paediatr 93: 852-854.
43. Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. 2001. Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet 38: 26-34.
44. Yunis E, González JT, Torres de Caballero OM. 1977. Partial trisomy. 16q. Hum Genet 38: 347-350.
45. Zahn S, Ehrbrecht A, Bosse K, Kalscheuer V, Propping P, Schwanitz G, Albrecht B, Engels H. 2005. Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1). Am J Med Genet Part A 13A: 19-24.