Turner Syndrome with Isochromosome Xq

Abstract

Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8]. Classic Turner syndrome has a more severe phenotype than variant causes of Turner syndrome. We present a patient with 46,X,i(Xq) karyotype and compare the clinical and laboratory findings with the classic description of Turner syndrome. Our patient has normal social and psychomotor skills unlike previously reported cases in the literature. This case expands the phenotype–genotype description of Turner syndrome, which makes it an important contribution to the literature.

Keywords

Turner syndrome - isochromosome - phenotype - genotype

• References

• 1 Wiedemann HR, Glatzl J. Follow-up of Ullrich's original patient with “Ullrich-Turner” syndrome. Am J Med Genet 1991; 41 (01) 134-136
• 2 Başaran N. Medical Genetics Textbook. 6th ed. Eskişehir, Turkey: Bilim Teknik Publishers; 1986: 250-251
• 3 Frías JL, Davenport ML. ; Committee on Genetics and Section on Endocrinology. Health supervision for children with Turner syndrome. Pediatrics 2003; 111 (03) 692-702
• 4 Massa GG, Vanderschueren-Lodeweyckx M. Age and height at diagnosis in Turner syndrome: influence of parental height. Pediatrics 1991; 88 (06) 1148-1152
• 5 Massa G, Vanderschueren-Lodeweyckx M, Malvaux P. Linear growth in patients with Turner syndrome: influence of spontaneous puberty and parental height. Eur J Pediatr 1990; 149 (04) 246-250
• 6 Hibi I, Tanae A. Final height. Turner syndrome with and without gonadal function. In: Rosenfield RG, Grumbach MM. , eds. Turner Syndrome. New York: Marcel Dekker Inc.; 1990: 163-181
• 7 Behrman RE. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, PA: WB Saunders; 2004: 1931-1932
• 8 Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. In: Gorlin RJ, Cohen MM, Hennekam RCM. , eds. Oxford Monographs on Medical Genetics, No. 42. 4th ed. Oxford: Oxford University Press; 2001: 57-62
• 9 Doğer E, Çakıroğlu Y, Ceylan Y, Ulak E, Özdamar Ö, Çalışkan E. Reproductive and obstetric outcomes in mosaic Turner's syndrome: a cross-sectional study and review of the literature. Reprod Biol Endocrinol 2015; 13: 59
• 10 Mitelman F. , ed. ISCN 1995—An International System for Human Cytogenetic Nomenclature. Basel: Karger Publishers; 1995
• 11 Mandahl N. Methods in solid tumour cytogenetics. In: Rooney DE, Czepulkowski BH. , eds. Human Cytogenetics: A Practical Approach. 2nd ed. Oxford: IRL Press at Oxford University Press; 1992: 155-187
• 12 Gawlik AM, Hankus M, Szeliga K. , et al. Late-onset puberty induction by transdermal estrogen in Turner syndrome girls—a longitudinal study. Front Endocrinol 2018; 9: 23
• 13 Gjikopulli A, Grimci L, Kollcaku L, Cullufi P, Tako A. Pattern and frequency of short stature in Albanian children. Curr Health Sci J 2016; 42 (04) 390-395
• 14 Stanescu DE, Gruccio D. 50 years ago in the journal of pediatrics: the XO syndrome: a study of the differential phenotype in 25 patients. J Pediatr 2013; 163 (04) 1044
• 15 Legro RS. Turner syndrome: new insights into an old disorder. Fertil Steril 2012; 98 (04) 773-774
• 16 Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 1994; 71 (05) 433-436
• 17 Fuchs MM, Attenhofer Jost C, Babovic-Vuksanovic D, Connolly HM, Egbe A. Long-term outcomes in patients with Turner syndrome: a 68-year follow-up. J Am Heart Assoc 2019; 8 (11) e011501