Abstract
Background: Phenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations.
Methods: The sample comprised 80 patients with ≥50 cells analyzed in karyotype. Twenty were 45,X/46,X,+mar; three groups of 20 patients were constructed by matching those girls with the nearest-aged patient with 45,X, 45,X/46,XX and 45,X/46,X,i(Xq) or 46,X,i(Xq) karyotype.
Results: Data were obtained on height z-score, dysmorphic features, echocardiogram and urinary system sonography. The number of dysmorphic features ranged from one to 16 and was not correlated to age at diagnosis or height. The groups did not differ in height, number of dysmorphic features, cardiovascular and urinary system anomalies and frequency of any specific feature, except for short fourth metacarpal.
Conclusions: Wide phenotypical variability of TS may be objectively described and its clinical picture is not correlated to karyotype.
Acknowledgments
The authors are grateful to the Cytogenetics Laboratory of the Department of Medical Genetics of the University of Campinas (UNICAMP).
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This work was supported by Brazil’s National Council for Scientific and Technological Development (CNPq/PIBIC).
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.
References
1. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81–3.10.1007/BF01213097Search in Google Scholar PubMed
2. Robles Valdés C, del Castillo Ruiz V, Oyoqui J, Altamirano Bustamante N, de la Luz Ruiz Reyes M, et al. Growth, growth velocity and adult height in Mexican girls with Turner’s syndrome. J Pediatr Endocrinol Metab 2003;16:1165–73.10.1515/JPEM.2003.16.8.1165Search in Google Scholar PubMed
3. De Lemos-Marini SH, Morcillo AM, Baptista MT, Guerra-Jr G, Maciel-Guerra AT. Spontaneous final height in Turner’s syndrome in Brazil. J Pediatr Endocrinol Metab 2007;20:1207–14.10.1515/JPEM.2007.20.11.1207Search in Google Scholar
4. Pasquino A, Passeri F. Spontaneous pubertal development in Turner’s syndrome 1. J Clin Endocrinol Metab 1997;82:1810–3.10.1210/jc.82.6.1810Search in Google Scholar
5. Carvalho AB, Guerra Júnior G, Baptista MT, de Faria AP, Marini SH, et al. Cardiovascular and renal anomalies in Turner syndrome. Rev Assoc Med Bras 2010;56:655–9.10.1590/S0104-42302010000600012Search in Google Scholar PubMed
6. Bondy C. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10–25.10.1210/jc.2006-1374Search in Google Scholar PubMed
7. Palmer CG, Reichmann A. Chromosomal and clinical findings in 110 females with Turner syndrome. Hum Genet 1976;35:35–49.10.1007/BF00295617Search in Google Scholar PubMed
8. Lippe B. Turner syndrome. In: Sperling M, editor. Pediatric endocrinology. Philadelphia: W.B. Saunders Company, 1996:387–422.Search in Google Scholar
9. Sävendahl L, Davenport ML. Delayed diagnoses of Turner’s syndrome: proposed guidelines for change. J Pediatr 2000;137: 455–9.10.1067/mpd.2000.107390Search in Google Scholar PubMed
10. Jones KL. 45, X Syndrome. In: Jones KL, editor. Smith’s recognazible patterns of human malformation. 6th ed. Philadelphia: Elsevier Saunders, 2006:76–81.Search in Google Scholar
11. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner’s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24–7.10.1007/BF00289473Search in Google Scholar PubMed
12. Hook EB, Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet 2014;133:417–24.10.1007/s00439-014-1420-xSearch in Google Scholar PubMed
13. Barros BA, Maciel-Guerra AT, De Mello MP, Coeli FB, Carvalho AB, et al. [The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome]. Arq Bras Endocrinol Metabol 2009;53:1137–42.10.1590/S0004-27302009000900010Search in Google Scholar
14. Rao E, Weiss B, Fukami M, Rump A, Niesler B, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54–63.10.1038/ng0597-54Search in Google Scholar PubMed
15. Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000;9: 695–702.10.1093/hmg/9.5.695Search in Google Scholar PubMed
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