Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter

American Journal of Medical Genetics

Volumn 70, Issue 1, 1997, Pages 87-94

  Sarri, C ^a,f   Gyftodimou, J ^a   Avramopoulos, D ^a   Grigoriadou, M ^a   Pedersen, W ^e   Pandelia, E ^a   Pangalos, C ^b   Abazis, D ^b   Kitsos, G ^c   Vassilopoulos, D ^d   Brondum Nielsen K ^e   Petersen, M B ^a  

^a Institute of Child Health   (Greece)

^b Diagnostic Genetic Center   (Greece)

^c UNIVERSITY HOSPITAL OF IOANNINA   (Greece)

^d Neurological Department   (Greece)

^e JOHN F KENNEDY INSTITUTE   (Denmark)

^f AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Chromosome 17; De novo unbalanced translocation; Partial trisomy 17q; Postzygotic error; Stargardt disease

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17Q; CHROMOSOME TRANSLOCATION 17; CHROMOSOME TRANSLOCATION X; HUMAN; PARTIAL MONOSOMY; PARTIAL TRISOMY; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENETIC MARKERS; GENOMIC IMPRINTING; HUMANS; KARYOTYPING; MALE; MONOSOMY; POLYMORPHISM, GENETIC; PSYCHOMOTOR PERFORMANCE; TRANSLOCATION, GENETIC; TRISOMY; X CHROMOSOME; ZYGOTE;

EID: 0030895660     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970502)70:1<87::aid-ajmg16>3.0.co;2-t     Document Type: Review

References (46)

1. Antonarakis SE, Avramopoulos D, Blouin JL, Talbot CC, Schinzel AA (1993): Mitotic errors somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nat Genet 3:146-150.
2. Berberich MS, Carey JC, Lauce HJ, Hall BD (1978): Duplication (partial trisomy) of the distal long arm of chromosome 17: A new clinically recognizable disorder. BD:OAS XIV:287-295.
3. Blouin JL, Binkert F, Antonarakis SE (1994): Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21:21) occur postzygotically. Am J Med Genet 49:363-368.
4. Bridge J, Sanger W, Mosher G, Buehler B, Hearty C, Olney A, Fordyce R (1985): Partial duplication of distal 17q. Am J Med Genet 22:229-235.
5. Caine A, Knapton DM, Mueller RF, Gongdon PJ, Haigh D (1989): Duplication of distal 17q from a maternal translocation: An additional case with some unique features. J Med Genet 26:577-579.
6. Cotter PD, Stewart NL (1990): Partial trisomy 17q and monosomy 9p due to a familial translocation. Ann Genet 33:231-233.
7. DeBrasi D, Genuardi M, D'Agostino A, Calvieri F, Tozzi C, Varrone S, Neri G (1995): Double autosomal/gonosomal mosaic aneuploidy: Study of nondisjunction in two cases with trisomy of chromosome 8. Hum Genet 95:519-525.
8. Economou EP, Bergen AW, Warren AC, Antonarakis SE (1990): The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci USA 87:2951-2954.
9. Fisher JM, Harvey JF, Lindenbaum RH, Boyd PA, Jacobs PA (1993): Molecular studies of trisomy 18. Am J Hum Genet 52:1139-1144.
10. Fryns JP, Parloir C, Van den Berghe H (1979): Partial trisomy 17q. Karyotype: 46, XY, der(21), t(17;21)(q22;p13). Hum Genet 49:361-364.
11. Gallien JU, Neu RL, Wynn RJ, Steinberg-Warren N, Bannerman RM (1981): Brief clinical report: An infant with duplication of 17q21-17qter. Am J Med Genet 8:111-115.
12. Geerkens C, Just W, Vogel W (1994): Deletions of Xq and growth deficit: A review. Am J Med Genet 50:105-113.
13. Greenberg F, Stratton PvF, Lockhart LH, Elder FFB, Dobyns WB, Ledbetter DH (1986): Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. Am J Med Genet 23:853-859.
14. Grigoriadou M, Bugge M, Avramopoulos D, Kitsiou-Tzeli S, Annerén G, Hertz JM, Lacombe D, Tsezou A, Galla-Voumvouraki A, Clausen N, Vassilopoulos D, Brondum-Nielsen K, Petersen MB (1995): Nondisjunction studies in trisomy 8. Am J Hum Genet 57:A114.
15. e ed. Paris: Expansion Scientifique Française, pp 288-291.
16. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Milleseau P, Marc S, Bernandi G, Lathrop M, Weissenbach J (1994): The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339.
17. Hagemeijer A, Hoovers J, Smit EME, Bootsma D (1977): Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet Cell Genet 18:333-348.
18. ISCN (1995): "An International System for Human Cytogenetic Nomenclature," Mitelman F (ed). Basel: S. Karger.
19. James RS, Jacobs PA (1996): Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population. Hum Genet 97:283-286.
20. King PA, Ghosh A, Tang M (1991): Mosaic partial trisomy 17q2. J Med Genet 28:641-643.
21. Kingston HM, Ledbetter DH, Tomlin PI, Gaunt KL (1996): Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridization. J Med Genet 33:69-72.
22. Lalloz MR, McVey JH, Pattinson JK, Tuddenham EGD (1991): Haemophilia: A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 338:207-211.
23. Lenzini E, Leszi A, Artifoni L, Casellato R, Tenconi R, Baccichetti C (1988): Partial duplication of 17 long arm. Ann Genet 31:175-180.
24. Miller SA, Dykes DD, Polesky HF (1988): A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16: 1215.
25. Naccache NF, Vianna-Morgante AM, Richieri-Costa A (1984): Brief clinical report: Duplication of distal 17q: Report of an observation. Am J Med Genet 17:633-639.
26. Nakagawa H, Inazawa J, Misawa S, Tanaka S, Takashima T, Taniwaki M, Abe T, Kashima K (1992): Detection of i(17q) chromosome by FISH with a chromosome 17 alpha satellite DNA probe. Cancer Genet Cytogenet 62:140-143.
27. Nunez PB, Rolon A, Lizcano LA, Rivera H (1993): Pure trisomy 17q from a 17;21 translocation. Genet Couns 4:227-229.
28. Ohdo S, Madocoro H, Sonoda T, Ohba KI (1989): Sibs lacking characteristic features of duplication of distal 17q. J Med Genet 26:465-468.
29. Opitz JM, Gilbert EF (1982): Editorial comment: CNS anomalies and the midline as a "developmental field." Am J Med Genet 12:443-455.
30. Orye E, Van Bever H (1985): De novo distal trisomy 17q. Ann Genet 28: 61-62.
31. Pangalos C, Avramopoulos D, Blouin JL, Raoul O, de Blois MC, Prieur M, Schinzel AA, Gika M, Abazis D, Antonarakis SE (1994): Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. Am J Hum Genet 54:473-481.
32. Parcheta B, Skawinsk W, Wisniews L, Piontek E, Gutkowsk A, Wermens K (1985): A new case of partial trisomy 17 long arm: Densitometric analysis of aberrations. Eur J Ped 143:314-316.
33. Petersen MB, Economou EP, Slaugenhaupt SA, Chakravarti A, Antonarakis SE (1990): Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics 7:136-138.
34. Petersen MB, Schinzel AA, Binkert F, Tranebjaerg L, Mikkelsen M, Collins FA, Economou EP, Antonarakis SE (1991): Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome. Am J Hum Genet 48:65-71.
35. Robb A, Forsyth I, Tolmie J (1987): Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus. J Med Genet 24:502-504.
36. Robinson WP, Bernasconi F, Basaran S, Yuksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Luleci G, Schinzel AA (1994): A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
37. Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA (1995): Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 56:444-451.
38. Rosenfeld PJ, Mckusick VA, Amberger JS, Dryja TP (1994): Recent advances in the gene map of inherited eye disorders:primary hereditary diseases of the retina, choroid and vitreous. J Med Genet 31:903-915.
39. Salamanca-Gomez F, Armendares S (1975): Identification of isochromosome 17 in a girl with mental retardation and congenital malformations. Ann Genet 18:235-238.
40. Serotkin A, Stamberg J, Waber L (1988): Duplication 17q mosaicism: An infant with features of Ellis-van Creveld syndrome. J Med Genet 25: 258-260.
41. Shawe DJ, Fear C, Appleyard WJ (1983): A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23). J Med Genet 20:383-385.
42. Shimizu T, Ikeuchi T, Shinohara T, Ohba S, Miyaguchi H, Akiyama T, Shibata T (1988): Distal trisomy of chromosome 17q due to inverted tandem duplication. Clin Genet 33:311-314.
43. Theune S, Fung J, Todd S, Sakaguchi AY, Naylor SL (1991): PCR primers for human chromosomes: reagents for the rapid analysis of somatic cell hybrids. Genomics 9:511-516.
44. Turleau C, Grouchy J de, Bouvert JP (1979): Distal trisomy 17q. Clin Genet 15:54-57.
45. Warburton D, Stein Z, Kline Z, Susser M (1980): Chromosome abnormalities in spontaneous abortion data from the New York City study. In Porter IH, Hook EB (eds): "Human Embryonic and Fetal Death," New York: Academic Press, pp.261-287.
46. Yamamoto Y, Endo Y, Kurok Y (1979): A case of partial trisomy 17 resulting from X-autosomal translocation. J Med Genet 16:395-399.