A very rare case of a newborn with tetrasomy 9p and literature review

Utine, Gülen Eda; yigit, sule; Simsek-Kiper, Pelin Ozlem; Süleyman, Merve; Kayki, Gozdem; Oğuz, Sümeyra; CELIK, HASAN TOLGA

doi:10.24953/turkjped.2021.685

A very rare case of a newborn with tetrasomy 9p and literature review

Merve SÜLEYMAN, (Hacettepe Üniversitesi, Tıp Fakültesi, Çocuk Hastalıkları Anabilim Dalı, Ankara, Türkiye)

Sümeyra OĞUZ, (Hacettepe Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Ankara, Türkiye)

Gozdem Kayki, (Hacettepe Üniversitesi, Tıp Fakültesi, Neonatoloji Anabilim Dalı, Ankara, Türkiye)

Hasan Tolga ÇELİK, (Hacettepe Üniversitesi, Tıp Fakültesi, Neonatoloji Anabilim Dalı, Ankara, Türkiye)

Pelin Ozlem Simsek-Kiper, (Hacettepe Üniversitesi, Tıp Fakültesi, Çocuk Genetiği Anabilim Dalı, Ankara, Türkiye)

Gülen Eda UTİNE, (Hacettepe Üniversitesi, Tıp Fakültesi, Çocuk Genetiği Anabilim Dalı, Ankara, Türkiye)

Şule YİĞİT (Hacettepe Üniversitesi, Tıp Fakültesi, Neonatoloji Anabilim Dalı, Ankara, Türkiye)

Turkish Journal of Pediatrics

3 0

Yıl: 2022 Cilt: 64 Sayı: 1 Sayfa Aralığı: 171 - 178 Metin Dili: İngilizce DOI: 10.24953/turkjped.2021.685 İndeks Tarihi: 15-12-2022

A very rare case of a newborn with tetrasomy 9p and literature review

Öz:

Background. Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short arm of chromosome 9. Phenotypic findings include multiple congenital anomalies, facial dysmorphism, growth and developmental delays, and also vary according to the presence and degree of mosaicism. Case. We report on a newborn with tetrasomy 9p who deceased in the newborn period. She had facial features including low-set and anteverted ears, hypertelorism, prominent nasal bridge, and microretrognathia. Bilateral ventriculomegaly, vermian hypoplasia and corpus callosum agenesis were detected on magnetic resonance imaging and double outlet right ventricle (tetralogy of Fallot type), secundum atrial septal defect, and persistent left superior vena cava were displayed by echocardiography. Microarray analysis revealed 38,584 kb tetrasomic region at 9p24.3p13.1. We also present a review of the literature suggesting that there is a recognizable phenotype for this condition and an assessment of cardiac manifestations based on the size and the localization of the breakpoints. Conclusions. We conclude that cardiac manifestations do not differ according to the localization of the breakpoint. Persistent left superior vena cava seems to be consistent with breakpoints distal to q12, but the present case is different from them by breakpoint p13.1.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

1. El Khattabi L, Jaillard S, Andrieux J, et al. Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review. Am J Med Genet A 2015; 167: 1252-1261. https://doi.org/10.1002/ajmg.a.36932
2. Pinto IP, Minasi LB, Steckelberg R, da Silva CC, da Cruz AD. Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report. BMC Pediatr 2018; 18: 298. https://doi.org/10.1186/s12887-018-1275-8
3. McAuliffe F, Winsor EJ, Chitayat D. Tetrasomy 9p mosaicism associated with a normal phenotype. Fetal Diagn Ther 2005; 20: 219-222. https://doi.org/10.1159/000083909
4. Papoulidis I, Kontodiou M, Tzimina M, et al. Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. Cytogenet Genome Res 2012; 136: 237-241. https://doi.org/10.1159/000337520
5. Verheij JB, Bouman K, van Lingen RA, et al. Tetrasomy 9p due to an intrachromosomal triplication of 9p13 p22. Am J Med Genet 1999; 86: 168-173. https://doi.org/10.1002/(SICI)1096-8628(19990910)86:2<168::AID-AJMG16>3.0.CO;2-Q
6. Brock JAK, Dyack S, Ludman M, Dumas N, Gaudet M, Morash B. Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: case report and review of literature. Am J Med Genet A 2012; 158: 406-411. https://doi.org/10.1002/ajmg.a.34272
7. Elbastawisy HI, Ghaly SW, Abualhasan SJ. A rare case of isochromosome 10: i (10p) and i (10q). Middle East Journal of Medical Genetics 2015; 4: 24-27. https://doi.org/10.1097/01.MXE.0000456628.99671.86
8. Fryer AE, Ashworth M, Hawe J, Pilling D, Pauling M, Maye U. Isochromosome 20p associated with multiple congenital abnormalities. Clin Dysmorphol 2005; 14: 49-50. https://doi.org/10.1097/00019605-200501000-00012
9. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004; 107: 55-67. https://doi.org/10.1159/000079572
10. Chen CP, Chang TY, Chern SR, et al. Prenatal diagnosis of low-level mosaic tetrasomy 9p by amniocentesis. Prenat Diagn 2007; 27: 383-385. https://doi.org/10.1002/pd.1678
11. Chen CP, Wang LK, Chern SR, et al. Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review. Taiwan J Obstet Gynecol 2014; 53: 79-85. https://doi. org/10.1016/j.tjog.2013.12.002
12. Ghymers D, Hermann B, Distèche C, Frederic J. Tétrasomie partielle du chromosome 9, à l’état de mosaïque, chez un enfant porteur de malformations multiples. Humangenetik 1973; 20: 273-282. https://doi.org/10.1007/BF00385740
13. Grass FS, Parke Jr JC, Kirkman HN, et al. Tetrasomy 9p: Tissue limited idic (9p) in a child with mild manifestations and a normal CVS result. Report and review. Am J Med Genet 1993; 47: 812-816. https://doi.org/10.1002/ajmg.1320470603
14. Wang H, Xie LS, Wang Y, Mei J. Prenatal diagnosis of mosaic tetrasomy 9p in a fetus with isolated persistent left superior vena cava. Taiwan J Obstet Gynecol 2015; 54: 204-205. https://doi.org/10.1016/j.tjog.2014.12.005
15. McDowall A, Blunt S, Berry A, Fensom A. Prenatal diagnosis of a case of tetrasomy 9p. Prenat Diagn 1989; 9: 809-811. https://doi.org/10.1002/pd.1970091110
16. Boxill M, Becher N, Sunde L, Thelle T. Choroid plexus hyperplasia and chromosome 9p gains. Am J Med Genet A 2018; 176: 1416-1422. https://doi.org/10.1002/ajmg.a.38697
17. Fremond ML, Gitiaux C, Bonnet D, et al. Mosaic tetrasomy 9p: a mendelian condition associated with pediatric-onset overlap myositis. Pediatrics 2015; 136: e544-e547. https://doi.org/10.1542/peds.2015-0724
18. Ions R, Narayanan M, Browning M, Gaillard EA, Stiefel G, Tang JW. Case presentation: persistent adenovirus B3 infections associated with bronchiolitis obliterans treated with cidofovir in a child with mosaic tetrasomy 9p. BMC Infect Dis 2018; 18: 529. https://doi.org/10.1186/s12879-018-3441-x
19. Lazebnik N, Cohen L. Prenatal diagnosis and findings of tetrasomy 9p. J Obstet Gynaecol Res 2015; 41: 997-1002. https://doi.org/10.1111/jog.12706
20. Sifuentes-Dominguez L, Starokadomskyy P, Welch J, et al. Mosaic tetrasomy 9p associated with ınflammatory bowel disease. J Crohns Colitis 2019; 13: 1474-1478. https://doi.org/10.1093/ecco-jcc/jjz079
21. Dhandha S, Hogge W, Surti U, McPherson E. Three cases of tetrasomy 9p. Am J Med Genet 2002; 113: 375-380. https://doi.org/10.1002/ajmg.b.10826
22. Nakamura-Pereira M, Cima LC, Llerena JC Jr, Guerra FA, Peixoto-Filho FM. Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation. J Clin Ultrasound 2009; 37: 471-474. https://doi.org/10.1002/jcu.20612
23. Shehab MI, Mazen I, Bint S. Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH. Am J Med Genet A 2011; 155A: 2496-2500. https://doi.org/10.1002/ajmg.a.34176
24. di Vera E, Liberati M, Celentano C, et al. Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. J Assist Reprod Genet 2008; 25: 577-580. https://doi.org/10.1007/s10815-008-9257-7
25. Ogino W, Takeshima Y, Nishiyama A, Yagi M, Oka N, Matsuo M. Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production. Kobe J Med Sci 2007; 53:143-150.
26. Tan YQ, Chen XM, Hu L, Guan XY, Lu GX. Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH: case report. Chin Med J (Engl) 2007; 120: 1281-1283. https://doi.org/10.1097/00029330-200707020-00016
27. Henriques-Coelho T, Oliva-Teles N, Fonseca-Silva ML, Tibboel D, Guimaraes H, Correia-Pinto J. Congenital diaphragmatic hernia in a patient with tetrasomy 9p. J Pediatr Surg 2005; 40: e29-e31. https://doi.org/10.1016/j.jpedsurg.2005.06.032
28. Deurloo KL, Cobben JM, Heins YM, de Ru M, Wijnaendts LC, van Vugt JM. Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy- Walker malformation: a case report. Prenat Diagn 2004; 24: 796-798. https://doi.org/10.1002/pd.850
29. Hengstschlager M, Bettelheim D, Drahonsky R, Repa C, Deutinger J, Bernaschek G. Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation. Prenat Diagn 2004; 24: 623-626. https://doi.org/10.1002/pd.933
30. Tang W, Boyd BK, Hummel M, Wenger SL. Prenatal diagnosis of tetrasomy 9p. Am J Med Genet A 2004; 126A: 328. https://doi.org/10.1002/ajmg.a.20511
31. de Azevedo Moreira LM, Freitas LM, Gusmao FA, Riegel M. New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl. Birth Defects Res A Clin Mol Teratol 2003; 67: 985-988. https://doi.org/10.1002/bdra.10126
32. Lloveras E, Perez C, Sole F, et al. Two cases of tetrasomy 9p syndrome with tissue limited mosaicism. Am J Med Genet A 2004; 124A: 402-406. https://doi.org/10.1002/ajmg.a.20447
33. Cazorla Calleja MR, Verdu A, Felix V. Dandy-Walker malformation in an infant with tetrasomy 9p. Brain Dev 2003; 25: 220-223. https://doi.org/10.1016/S0387-7604(02)00211-5
34. Leichtman LG, Zackowski JL, Storto PD, Newlin A. Non mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p. Am J Med Genet 1996; 63: 434-437. https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3<434::AID-AJMG4>3.0.CO;2-R
35. Rutten F, Scheres J, Hustinx TW, Haar Bt. A presumptive tetrasomy for the short arm of chromosome 9. Humangenetik 1974; 25: 163-170. https://doi.org/10.1007/BF00281423
36. Orye E, Verhaaren H, Van den Bogaert-Van Heesvelde AM. The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation. Clin Genet 1975; 8: 349-357. https://doi.org/10.1111/j.1399-0004.1975.tb01513.x
37. Moedjono S, Crandall B, Sparkes R. Tetrasomy 9p: confirmation by enzyme analysis. J Med Genet 1980; 17: 227-230. https://doi.org/10.1136/jmg.17.3.227
38. Schaefer GB, Domek DB, Morgan MA, Muneer RS, Johnson SF. Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype. Am J Med Genet 1991; 38: 612-615. https://doi.org/10.1002/ajmg.1320380422
39. Eggermann T, Rossier E, Theurer Mainka U, et al. New case of mosaic tetrasomy 9p with additional neurometabolic findings. Am J Med Genet 1998; 75: 530-533. https://doi.org/10.1002/(SICI)1096-8628(19980217)75:5<530::AID-AJMG14>3.0.CO;2-L
40. Tonk VS. Moving towards a syndrome: a review of 20 cases and a new case of non mosaic tetrasomy 9p with long term survival. Clin Genet 1997; 52: 23-29. https://doi.org/10.1111/j.1399-0004.1997.tb02510.x
41. Balestrazzi P, Croci G, Frassi C, Franchi F, Giovannelli G. Tetrasomy 9p confirmed by GALT. J Med Genet 1983; 20: 396-399. https://doi.org/10.1136/jmg.20.5.396
42. Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation. Eur J Hum Genet 1998; 6: 140. https://doi.org/10.1038/sj.ejhg.5200168
43. Stumm M, Tönnies H, Mandon U, Götze A, Krebs P, Wieacker P. Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies. Eur J Pediatr 1999; 158: 571-575. https://doi.org/10.1007/s004310051149
44. Wisniewski L, Politis G, Higgins J. Partial tetrasomy 9 in a liveborn infant. Clin Genet 1978; 14: 147-153. https://doi.org/10.1111/j.1399-0004.1978.tb02120.x
45. Calvieri F, Tozzi C, Benincori C, et al. Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations. Eur J Pediatr 1988; 147: 645-648. https://doi.org/10.1007/BF00442483

APA	Süleyman M, Oğuz S, Kayki G, CELIK H, Simsek-Kiper P, Utine G, yigit s (2022). A very rare case of a newborn with tetrasomy 9p and literature review. , 171 - 178. 10.24953/turkjped.2021.685
Chicago	Süleyman Merve,Oğuz Sümeyra,Kayki Gozdem,CELIK HASAN TOLGA,Simsek-Kiper Pelin Ozlem,Utine Gülen Eda,yigit sule A very rare case of a newborn with tetrasomy 9p and literature review. (2022): 171 - 178. 10.24953/turkjped.2021.685
MLA	Süleyman Merve,Oğuz Sümeyra,Kayki Gozdem,CELIK HASAN TOLGA,Simsek-Kiper Pelin Ozlem,Utine Gülen Eda,yigit sule A very rare case of a newborn with tetrasomy 9p and literature review. , 2022, ss.171 - 178. 10.24953/turkjped.2021.685
AMA	Süleyman M,Oğuz S,Kayki G,CELIK H,Simsek-Kiper P,Utine G,yigit s A very rare case of a newborn with tetrasomy 9p and literature review. . 2022; 171 - 178. 10.24953/turkjped.2021.685
Vancouver	Süleyman M,Oğuz S,Kayki G,CELIK H,Simsek-Kiper P,Utine G,yigit s A very rare case of a newborn with tetrasomy 9p and literature review. . 2022; 171 - 178. 10.24953/turkjped.2021.685
IEEE	Süleyman M,Oğuz S,Kayki G,CELIK H,Simsek-Kiper P,Utine G,yigit s "A very rare case of a newborn with tetrasomy 9p and literature review." , ss.171 - 178, 2022. 10.24953/turkjped.2021.685
ISNAD	Süleyman, Merve vd. "A very rare case of a newborn with tetrasomy 9p and literature review". (2022), 171-178. https://doi.org/10.24953/turkjped.2021.685

APA	Süleyman M, Oğuz S, Kayki G, CELIK H, Simsek-Kiper P, Utine G, yigit s (2022). A very rare case of a newborn with tetrasomy 9p and literature review. Turkish Journal of Pediatrics, 64(1), 171 - 178. 10.24953/turkjped.2021.685
Chicago	Süleyman Merve,Oğuz Sümeyra,Kayki Gozdem,CELIK HASAN TOLGA,Simsek-Kiper Pelin Ozlem,Utine Gülen Eda,yigit sule A very rare case of a newborn with tetrasomy 9p and literature review. Turkish Journal of Pediatrics 64, no.1 (2022): 171 - 178. 10.24953/turkjped.2021.685
MLA	Süleyman Merve,Oğuz Sümeyra,Kayki Gozdem,CELIK HASAN TOLGA,Simsek-Kiper Pelin Ozlem,Utine Gülen Eda,yigit sule A very rare case of a newborn with tetrasomy 9p and literature review. Turkish Journal of Pediatrics, vol.64, no.1, 2022, ss.171 - 178. 10.24953/turkjped.2021.685
AMA	Süleyman M,Oğuz S,Kayki G,CELIK H,Simsek-Kiper P,Utine G,yigit s A very rare case of a newborn with tetrasomy 9p and literature review. Turkish Journal of Pediatrics. 2022; 64(1): 171 - 178. 10.24953/turkjped.2021.685
Vancouver	Süleyman M,Oğuz S,Kayki G,CELIK H,Simsek-Kiper P,Utine G,yigit s A very rare case of a newborn with tetrasomy 9p and literature review. Turkish Journal of Pediatrics. 2022; 64(1): 171 - 178. 10.24953/turkjped.2021.685
IEEE	Süleyman M,Oğuz S,Kayki G,CELIK H,Simsek-Kiper P,Utine G,yigit s "A very rare case of a newborn with tetrasomy 9p and literature review." Turkish Journal of Pediatrics, 64, ss.171 - 178, 2022. 10.24953/turkjped.2021.685
ISNAD	Süleyman, Merve vd. "A very rare case of a newborn with tetrasomy 9p and literature review". Turkish Journal of Pediatrics 64/1 (2022), 171-178. https://doi.org/10.24953/turkjped.2021.685