Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, et al. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res 2008;18:89–110.Google Scholar
Rogol AD, Hayden GF. Etiologies and early diagnosis of short stature and growth failure in children and adolescents. J Pediatr 2014;164(Suppl 5):S1–14.e6.Google Scholar
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, et al. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet 2016;90:509–17.Google Scholar
Thrasher BJ, Hong LK, Whitmire JK, Su MA. Epigenetic dysfunction in turner syndrome immune cells. Curr Allergy Asthma Rep 2016;16:36.Google Scholar
Mozdarani H, Meybodi AM, Karimi H. Impact of pericentric inversion of Chromosome 9 [inv (9) (p11q12)] on infertility. Indian J Hum Genet 2007;13:26–9.Google Scholar
Dana M, Stoian V. Association of pericentric inversion of chromosome 9 and infertility in romanian population. Maedica (Buchar) 2012;7:25–9.Google Scholar
Lee SG, Park TS, Lim G, Lee KA, Song J, et al. Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years. Ann Clin Lab Sci 2010;40:273–7.Google Scholar
Sharony R, Amiel A, Einy R, Fejgin M. Prenatal diagnosis of pericentric inversion in homologues of chromosome 9: a decision dilemma. Am J Perinatol 2007;24:137–40.Google Scholar
Schneider KU, Sabherwal N, Jantz K, Roth R, Muncke N, et al. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. Am J Hum Genet 2005;77:89–96.Google Scholar
Flanagan SF, Munns CF, Hayes M, Williams B, Berry M, et al. Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. J Med Genet 2002;39:758–63.Google Scholar
Sabherwal N, Bangs F, Roth R, Weiss B, Jantz K, et al. Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum Mol Genet 2007;16: 210–22.Google Scholar
Chen J, Wildhardt G, Zhong Z, Roth R, Weiss B, et al. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J Med Genet 2009;46:834–9.Google Scholar
Starke H, Seidel J, Henn W, Reichardt S, Volleth M, et al. Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 2002;10:790–800.Google Scholar
Kosyakova N, Grigorian A, Liehr T, Manvelyan M, Simonyan I, et al. Heteromorphic variants of chromosome 9. Mol Cytogenet 2013;6:14.Google Scholar
Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child 1969;44:291–303.Google Scholar
Li H, Zhang R. Growth curves of children fro m birth to 7 years of age. Chin J Pediatr 2002;40:662–5.Google Scholar
Ma J, Wu SS, Song Y, Hu PJ, Zhang B. Secular growth trends in height and weight of Chinese children aged 7 to 18 year-old from 1985 to 2005. J Peking University (Health Science) 2010;42:318–22.Google Scholar
Shalet SM, Toogood A, Rahim A, Brennan BM. The diagnosis of growth hormone deficiency in children and adults. Endocr Rev 1998;19:203–23.Google Scholar
Shaffer LG, Slovak ML, Campbell LJ. An international system for human cytogenetic nomenclature. Basel, Switzerland: S. Karger Publishing, 2009.Google Scholar
Brothman AR, Persons DL, Shaffer LG. Nomenclature evolution: Changes in the ISCN from the 2005 to the 2009 edition. Cytogenet Genome Res 2009;127:1–4.Google Scholar
Teo SH, Tan M, Knight L, Yeo SH, Ng I. Pericentric inversion 9--incidence and clinical significance. Ann Acad Med Singapore 1995;24:302–4.Google Scholar
Yamada K. Population studies of INV(9) chromosomes in 4,300 Japanese: incidence, sex difference and clinical significance. Jpn J Hum Genet 1992;37:293–301.Google Scholar
Ghazaey S, Mirzaei F, Ahadian M, Keifi F, Semiramis T, et al. Pattern of chromosomal aberrations in patients from north East iran. Cell J 2013;15:258–65.Google Scholar
Mozdarani H, Meybodi AM, Zari-Moradi S. A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure. Indian J Hum Genet 2008;14:1–6.Google Scholar
Wang XR, Deng JX, Li JJ. The relationship between clinicaloutcomes of reproduc-tiveabnormalities and chromosome polymorphism. Yi Chuan 2007;29:1362–66.Google Scholar
Jeong SY, Kim BY, Yu JE. De novo pericentric inversion of chromosome 9 in congenital anomaly. Yonsei Med J 2010;51:775–80.Google Scholar
Al Alwan I, Khadora M, Amir I, Nasrat G, Omair A, et al. Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis. Int J Health Sci (Qassim) 2014;8:195–202.Google Scholar
Arthold S, Kurowski A, Wutz A. Mechanistic insights into chromosome-wide silencing in X inactivation. Hum Genet 2011;130:295–305.Google Scholar
Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005;434:400–4.Google Scholar
Huber C, Rosilio M, Munnich A, Cormier-Daire V, French SG. High incidence of SHOX anomalies in individuals with short stature. J Med Genet 2006;43:735–9.Google Scholar
Rajpathak SN, Vellarikkal SK, Patowary A, Scaria V, Sivasubbu S, et al. Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome. PLoS One 2014;9:e100076.Google Scholar
Wang XM, Yu HJ, Sun LY, Jin HS, Dong GP, et al. Height SDS is related to karyotypes and birth weight in girls with Turner syndrome. Hong Kong J Paediatr 2013;18:24–30.Google Scholar
Demirhan O, Pazarbasi A, Suleymanova-Karahan D, Tanriverdi N, Kilinc Y. Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling. Saudi Med J 2008;29:946–51.Google Scholar
About the article
Published Online: 2017-03-17
Published in Print: 2017-04-01
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.