Document Type : Original Research


Molecular Pathology and Cytogenetics Ward, Pathology Dept., Shiraz University of Medical Sciences, Shiraz, Iran


Background and Objective: Failure to thrive (FTT) is a sign that describes a particular problem rather than a diagnosis and explain growth failure or more advanced failure to gain weight appropriately. The aim of this study was to determine the prevalence and type of chromosomal abnormalities in patients presented with FTT.
Materials and Method: One hundred FTT cases with clinical impression of having chromosomal abnormality referred for cytogenetic study during a period of 5 years (2007-2011) with age range from 5 month to 15 years. Chromosomal analysis was carried out for them. The standard protocol for peripheral blood lymphocyte culture was followed by metaphase chromosome preparation and conventional analysis of G-banded chromosomes. All analyses were performed using the SPSS soft ware package, version 18.
Result: Fifteen cases showed karyotypic abnormality. The most common karyotype abnormality was aneuploidy resulted from monosomy of the chromosome X in girls.
Conclusion: Turner syndrome with various forms of chromosomal complement is the most common chromosomal abnormality causing growth failure in girls.


  1. Kliegman RM, Behrman R, Jenson HB, Stanton BF editors. Nelson Textbook of Pediatrics. 18th ed. New York:Elsevier;2007.
  2. © 2012 UpToDate, Inc. [Updated 2010 May 15; cited 2011 May 2]. Available from:http//
  3. Batch J. Turner syndrome in childhood and adolescence. Best Pract Res Clin Endocrinol Metab 2002;16(3):465-82.
  4. Rajasekhar M, Murugesan R, Rao R, Shetty H, Jyothirao, Gopinath PM, et al. Cytogenetic analysis of 1400 referral cases: Manipal experience. Int J Hum Genet 2010;10(1-3):49-55.
  5. Verma IC. Burden of genetic disorders in India. Indian J Pediatr 2000;67(12):893-98.
  6. Verma IC, Saxena R, Lall M, Bijarnia S, Sharma R. Genetic counseling and prenatal diagnosis in India experience at Sir Ganga Ram Hospital Indian. J Pediatr 2003;70(4):293-7.
  7. Shaffer LG, Slovak ML, Campbell LJ. ISCN 2009 an international system for human cytoenetic nomenclature. Basel:Karger publishers, Inc; 2009.
  8. Iqbal U, Mehmood S, Faisal M, Hasnain S. Chromosomal analysis of girls with short stature and puberty failure. Trends Med Res 2007;2(4):204-7.
  9. Monastirli A, Stephanou G, Georgiou S, Andrianopoulos C, Pasmatzi E, Chroni E, et al. Short stature, type E brachydactyly, exostoses, gynecomastia and cryptoorchidism in a patient with 47,XYY/45,X/46,XY mosaicism. Am J Med Sci 2005;329(4):208-10.
  10. Pipiras E, Dupont C, Chantot-Bastaraud S, Siffroi JP, Bucourt M, Batallan A, et al. Structural chromosomal mosaicism and prenatal diagnosis. Prenat  Diagn 2004;24(2):101-3.
  11. Langlos S, Yong SL, Wilson RD, Kwong LC, Kalousek DK. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 1995;32:871-5.
  12. Enders H. 9 chromosomal and genetic forms of growth failure.  Baillière's Clin Endocrinol Metab 1992;6 (3):621-43.
  13. 13 Jolley  CD.  Failure to thrive. Curr Pobl Pediatr Adolesc Health Care 2003;33:183-206.
  14. Philipp T, Philipp K, Reiner A, Beer F, Kalousek DK. Embryoscopic and cytogenetic analysis of 233 missed abortion: factors involved in the pathogenesis of developmental defects of early failed pregnancies. Hum Reprod 2003;18(8):1724-32.
  15. Petrović B, Ljubić A, Nikolić L. Chromosomal aberrations as etiological factors of intrauterine growth etardation. Vojnosanit Pregl 2008;65(3):195-8.
  16. Davenport ML, Punyasavatsut N, Gunther D, Savendahl L, Stewart PW. Turner syndrome: a pattern of early growth failure. Acta Paediatr Suppl 1999;88(433):118-21.
  17. Advameg, Inc. ;[ updated 2011 October 5; cited 2012 Jan 1].Available from: http://
  18. Goud KI, Raina V, Verma S, Chadha G. Cytogenetics and genetic counseling of patients in north India. JK Science 2006;8(1):28-30.
  19. Safaei A, Vasei M, Ayatollahi H. cytogenetic analysis with primary amenorrehea in southern of iran. Iran j pathol 2010;5(3):121-5.
  20. Kammoun I, Chaabouni M, Trabelsi M, Ouertani I, Kraoula L, M'rad R. genetic analysis of turner syndrome: 89 cases in tunisia. Ann Endocrinol 2008;69(5):440-5.
  21. El-Bassyouni HT, Afifi HH, Aglan MS, Mahmoud WM, Zaki M. Growth curves of Egyptian patients with Turner syndrome. Am J Med Genet A Am J Med Genet A. 2012 Jul 27. doi: 10.1002/ajmg.a.35518.
  22. McPherson MR, Pincus MR. Henry's clinical diagnosis and management by laboratory method. 22th ed. New York:Elsevier;2011.
  23. Mathur A, Stekol L, Schatz D, Maclaren NK, Scott ML, Lippe B. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. Am J Hum Genet 1991;48:682-6.