Ljiljana PEJCIC, Tatijana STANKOVIC, Ivana NIKOLIC, Marija RATKOVIC JANKOVIC, Karin VASIC

Clinical manifestations in trisomy 9 mosaicism

Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic ornonmosaic state with similar clinical features. The authors present a male withmosaic trisomy 9 from birth to 6 months of life. Clinical manifestations includedgrowth retardation, facial dysmorphism with marked hemi facial hypoplasia andfacial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrialseptal defect, undescended testes and hypospadia. He had several episodesof seizures and ultrasound examination described severe ventriculomegaly,with poorly differentiated parenchyme. These findings are compared to theother previously described cases of trisomy 9 mosaicism through a reviewof literature.

PDF

___

. Feingold M, Atkins L. A case of trisomy 9. J Med Genet 1973; 10: 184-187.
2. Haslam RH, Broske SP, Moore CM, Thomas GH, Neillal A. Trisomy 9 mosaicism with multiple congenital anomalies. J Med Genet 1973; 10: 180-184.
3. Bruns D. Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism. Am J Med Genet A 2011; 155A: 1033-1039.
4. Bruns DA, Campbell E. Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status. Am J Med Genet Part A 2015; 167A: 997-1007.
Jones KL, Jones MC, Del Campo M. Trisomy 9 mosaicism. Smith’s recognizable patterns of human malformation, 7e. Philadelphia: Elsevier Saunders, 2013: 28-29; 48-50.
6. Kannan TP, Hemlatha S, Ankathil R, Zilfalil BA. Clinical manifestations in trisomy 9. Indian J Pediatr 2009; 76: 745-746.
7. Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival. Sao Paulo Med J 2011; 129: 428-432.
8. Stoll C, Chognot D, Half A. Luckel JC. Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. J Med Genet 1993; 30: 433-435.
9. Miryounesi M, Dianatpour M, Shadmani Z, GhafouriFard S. Report of a case with trisomy 9 mosaicism. Iran J Med Sci 2016; 41: 249-252.
10. de Ravel TJ, Legius E, Brems H, Van Hoestenberghe R, Gillis PH, Fryns JP. Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor. Clin Dysmorphol 2001; 10: 263- 267.
11. Patil SJ, Ponnala R, Shah S, Dalal A. Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: Intricate issues of genetic counseling. Indian J Pediatr 2012; 79: 806-809.
12. Arnold GL, Kirby RS, Stern TP, Sawyer JR. Trisomy 9: Review and report of two new cases. Am J Med Genet 1995; 56: 252-257.
13. Wooldridge J, Zunich J. Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature. Am J Med Gen 1995; 56: 258-264.
14. Tarani L, Colloridi F, Raguso G, et al. Trisomy 9 mosaicism syndrome. A case report and review of the literature. Ann Genet 1994; 37: 14-20.
15. Incecik F, Herguner MO, Mert G, Altunbasak S. Trisomy 9 mosaicism presenting with epilepsy, and facial dysmorphism. A case report. Cukurova Medical Journal 2014; 39: 343-346.
16. Saura R, Traore W, Taine L, et al. Prenatal diagnosis of trisomy 9. six cases and a review of the literature. Prenat Diagn 1995; 15: 609-614.
17. Levy I, Levy Y, Mammon Z, Nitzan M, Steinherz R. Gastrointestinal abnormalities in the syndrome of mosaic trisomy 9. J Med Gen 1989; 26: 280-281.