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1Q DUPLİKASYON SENDROM: NADİR BİR OLGU

Yıl 2009, Cilt: 10 Sayı: 1, 29 - 31, 01.04.2009

Aysegül Bükülmez Resit Köken Hamide Melek A. Sibel Tugral Mustafa Solak

Öz

Birinci kromozomun uzun kolundaki anormallikler hem yapısal genetik bozukluklarla hem de neoplastikhastalıklarla ilişkili bulunmuştur. Parsiyel trizomi 1q nadir gözlenir. Birinci kromozomun uzun kolundakianormallikler hem yapısal genetik bozukluklarla hem de neoplastik hastalıklarla ilişkili bulunmuştur. 1.kromozomun uzun kolundaki anormallikler yapısal yeniden düzenlenme, çeşitli delesyonlar ve etkilenenkromozom kolunun yada bölgesinin aşırı amplifikasyonu ile karakterize olabilir Kromozom 1q duplikasyonuçok sayıda visseral organ anomolisi, dismorfik özellikler ve psikomotor retardasyon ile birliktedir Bizdoğumunun 3. gününde beslenme intoleransı ve parmak anomolileri nedeni ile sevk edilen ve çok sayıdadismorfik özellikler ile birlikte eksploratif laparotomide intestinal malrotasyon saptanan 1q duplikasyonuolgusunu bildirdik

Anahtar Kelimeler

1q duplikasyonu yenidoğan dismorfik özellikler

Kaynakça

  • 1. Chan NP, Ng MH, Cheng SH, Lee V, Tsang KS, Lau TT, Li CK. Hereditary duplication of proximal choromosome 1q(q11q22) in patient with T lymphobalstic lymphoma/leukamia: a familiy study using G banding and comparative genomic hybridisation. J Med Genet 2002;39:e79.
  • 2. Pettenati MJ, Berry M, Shashi V, Hartley Bowen J, Harper M. Prenatal diagnosis of complete sole trisomy 1q. Prenat Diagn 2001;21(6):435-40.
  • 3. Chen H, Kusyk CJ, Turk-Muller CM, Martinez JE, Dorand RD, Wertelecki W. Confirmation of proximal 1q duplication using fluorescence in situ hybridization. Am J Med Genet 1994;50(1):28-31.
  • 4. Roshenthal J, Abeliovich D, Carmi R. Clinical variability of partial duplication 1q: a clinical report and literature review.Am J Med Genet 1987;27(4):787- 92.
  • 5. Michels VV, Berseth CL, O'Brien JF, Dewald G. Duplication of part of chromosome 1q: clinical report and review of literature. Am J Med Genet 1984;18 (1):125-34.
  • 6. Bartsch C, Aslan M, Kohler J, Miny P, Horst J, Holzgreve W, Rehder H, Fritz B. Duplication dup(1) (q32q44) detected by comparative genomic hybridization (CGH). Fetal Diagn Ther 2001;16(5):265-73.
  • 7. Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S. Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet Genome Res2005;111(2):171-4.
  • 8. Dawson AJ, Wickstrom DE, Riordan D, Cardwell S, Casey R, Baldry S, Brown C. A unique patient with an Ullrich-Turner syndrome varient and mosaicism for a tiny r (x) and partial proximal duplication 1q.Am J Med GenetA2004;124(3):303-6.
  • 9. van Haelst MM, Eussen HJ, Visscher F, de Ruijter JL, Drop SL, Lindhout D, Wouters CH, Govaerts LC. Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1:further delination of the pure 1q trisomy syndrome. J Med Genet 2002;39:582-5.
  • 10. Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. Am J Med Genet 1994;52(2):178-83.
  • 11. Aboura A, Hermine CL A, Audibert F, Capron F, Frydman R, Tachdjian G. De novo interstitial direct duplication 1 (q23.1q31.1) in a fetus with Pierre Robin sequence and camplodactyly. Am J Med Genet A 2002;108(2) 153-9.
  • 12. Duba HC, Erdel M, Loffler J, Bereuther L, Fisher H, Utermann B, Utermann G. Detection of a denovo duplication of 1q32-q ter by fl ıorescence in situ hybridisation in a boy with multiple malformations: further delination of the trisomy 1 q syndrome. J Med Genet 1997;34 (4):309-13.
  • 13. Furforo L, Rittler M, Slavutsky IR. Proximal trisomy 1q in a girl developmental delay and minor anomolies. Am J Med Genet 1996;64(4):551-5.
  • 14. Hirshfeld AB, Thompson WR, Patel A, Bone LB, Murphy AM. Proximal trisomy of 1q mosaicism in a girl with hyperthrophic cardiomyopaty associated with Wolff-Parkinson-White Syndrome and multiple congenital anomies. Am J Med Genet 2001;100(4):264-8.
  • 15. Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J. De novo 1q32q44 duplication and distal 1q trisomy syndrome. Am J Med Genet A 2003;120(2):229-33.
  • 16. Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S. Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet Genome Res 2005;111(2):171-4.
  • 17. Wax JR, Benn P, Steinfeld JD, Ingardia CJ. Prenatally diagnosed sacrococygeal teratoma: a unique expression of trisomy 1q. Cancer Genet Cytogenet 2000(117):84-6.

Chromosome 1q Duplication Syndrome: A Rarely Case

Yıl 2009, Cilt: 10 Sayı: 1, 29 - 31, 01.04.2009

Aysegül Bükülmez Resit Köken Hamide Melek A. Sibel Tugral Mustafa Solak

Öz

The abnormalities on the long arm of first chromosome are described as related with both structural genetical deformities and neoplastic diseases. Partially trisomia 1q is rarely seen. Chromosome 1q duplication is accompanied by visseral organ anomalies, dismorphical findings and phsycomotor retardation. In this letter we report a case with 1q duplication, who was accepted to the clinic with feeding intoleranse, finger deformities and multipl dysmorphical findings and an intestinal malrotation observed by explorative laparotomia.

Anahtar Kelimeler

1q duplication newborn dysmorphic featuresed

Kaynakça

  • 1. Chan NP, Ng MH, Cheng SH, Lee V, Tsang KS, Lau TT, Li CK. Hereditary duplication of proximal choromosome 1q(q11q22) in patient with T lymphobalstic lymphoma/leukamia: a familiy study using G banding and comparative genomic hybridisation. J Med Genet 2002;39:e79.
  • 2. Pettenati MJ, Berry M, Shashi V, Hartley Bowen J, Harper M. Prenatal diagnosis of complete sole trisomy 1q. Prenat Diagn 2001;21(6):435-40.
  • 3. Chen H, Kusyk CJ, Turk-Muller CM, Martinez JE, Dorand RD, Wertelecki W. Confirmation of proximal 1q duplication using fluorescence in situ hybridization. Am J Med Genet 1994;50(1):28-31.
  • 4. Roshenthal J, Abeliovich D, Carmi R. Clinical variability of partial duplication 1q: a clinical report and literature review.Am J Med Genet 1987;27(4):787- 92.
  • 5. Michels VV, Berseth CL, O'Brien JF, Dewald G. Duplication of part of chromosome 1q: clinical report and review of literature. Am J Med Genet 1984;18 (1):125-34.
  • 6. Bartsch C, Aslan M, Kohler J, Miny P, Horst J, Holzgreve W, Rehder H, Fritz B. Duplication dup(1) (q32q44) detected by comparative genomic hybridization (CGH). Fetal Diagn Ther 2001;16(5):265-73.
  • 7. Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S. Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet Genome Res2005;111(2):171-4.
  • 8. Dawson AJ, Wickstrom DE, Riordan D, Cardwell S, Casey R, Baldry S, Brown C. A unique patient with an Ullrich-Turner syndrome varient and mosaicism for a tiny r (x) and partial proximal duplication 1q.Am J Med GenetA2004;124(3):303-6.
  • 9. van Haelst MM, Eussen HJ, Visscher F, de Ruijter JL, Drop SL, Lindhout D, Wouters CH, Govaerts LC. Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1:further delination of the pure 1q trisomy syndrome. J Med Genet 2002;39:582-5.
  • 10. Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. Am J Med Genet 1994;52(2):178-83.
  • 11. Aboura A, Hermine CL A, Audibert F, Capron F, Frydman R, Tachdjian G. De novo interstitial direct duplication 1 (q23.1q31.1) in a fetus with Pierre Robin sequence and camplodactyly. Am J Med Genet A 2002;108(2) 153-9.
  • 12. Duba HC, Erdel M, Loffler J, Bereuther L, Fisher H, Utermann B, Utermann G. Detection of a denovo duplication of 1q32-q ter by fl ıorescence in situ hybridisation in a boy with multiple malformations: further delination of the trisomy 1 q syndrome. J Med Genet 1997;34 (4):309-13.
  • 13. Furforo L, Rittler M, Slavutsky IR. Proximal trisomy 1q in a girl developmental delay and minor anomolies. Am J Med Genet 1996;64(4):551-5.
  • 14. Hirshfeld AB, Thompson WR, Patel A, Bone LB, Murphy AM. Proximal trisomy of 1q mosaicism in a girl with hyperthrophic cardiomyopaty associated with Wolff-Parkinson-White Syndrome and multiple congenital anomies. Am J Med Genet 2001;100(4):264-8.
  • 15. Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J. De novo 1q32q44 duplication and distal 1q trisomy syndrome. Am J Med Genet A 2003;120(2):229-33.
  • 16. Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S. Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet Genome Res 2005;111(2):171-4.
  • 17. Wax JR, Benn P, Steinfeld JD, Ingardia CJ. Prenatally diagnosed sacrococygeal teratoma: a unique expression of trisomy 1q. Cancer Genet Cytogenet 2000(117):84-6.
Toplam 17 adet kaynakça vardır.

Ayrıntılar

Diğer ID JA89DE92KB
Bölüm Olgu Sunumu
Yazarlar

Aysegül Bükülmez Bu kişi benim

Resit Köken Bu kişi benim

Hamide Melek Bu kişi benim

A. Sibel Tugral Bu kişi benim

Mustafa Solak Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2009
Yayımlandığı Sayı Yıl 2009 Cilt: 10 Sayı: 1

Kaynak Göster

EndNote Bükülmez A, Köken R, Melek H, Tugral AS, Solak M (01 Nisan 2009) Chromosome 1q Duplication Syndrome: A Rarely Case. Meandros Medical And Dental Journal 10 1 29–31.