FEMALE PATIENT WITH A VARIANT OF TURNER SYNDROME
The X chromosome contains determinants necessary to assure normal structural growth. Deletions of proportions of the X chromosome have been reported in a huge number of patients. We report on a mosaic short arm deletion of X chromosome (Xp-) in 14-years-old female patient with short stature, low set ears and no secondary sexual characteristics, a rare Turner syndrome variant. Chromosomal analysis using GTG-banding showed in 85% of cells and 46, X, del(Xp) in 15% of cells. The Fluorescence in situ hybridization technique of the cultured cells helped to perceive low grade cell line. Hence, molecular cytogenetics methods are essential to detect low level mosaicism which is important in better counseling.
KeywordsChromosomal analysis - sex chromosome - Fluorescence in situ hybridization - molecular cytogenetics
26 April 2020 (online)
Thieme Medical and Scientific Publishers Private Ltd.
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- 1 Christalena S, Eirini T, Olga F, Despina M, Helen F. Iridocyclitis in a Female Patient with a Variant of Turner Syndrome. J Genet Syndr Gene Ther. 2013; Volume 4, Issue 10.1000196. http://dx.doi.org/10.4172/2157-7412.1000196
- 2 Bondy CA. New Issues in the Diagnosis and Management of Turner Syndrome. Reviews in Endocrine & Metabolic Disorders. 2005; 6:269-280.
- 3 Ramachandram S, Keng WT, Ariffin R, Ganesan V. A mother with variant Turner syndrome and two daughters with trisomy X: a case report. Journal of Genetics. 2013; Vol. 92, No. 2.
- 4 Mazzaschi LP, Taylor J, Robertson SP, Love DR, George AM. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker. Hindawi Publishing Corporation Case Reports in Genetics. 2014; http://dx.doi.org/10.1155/2014/597314
- 5 Vundinti BR, Kerketta L, Korgaonkar S, Ghosh K, Mohanty D. Molecular Cytogenetic Evaluation of Xq Deletion Mosaicism in a Case of Primary Amenorrhea. Int J Hum Genet. 2004; 4(1):75-76.
- 6 Bharath R, Unnikrishnan AG, Thampy MV, Anilkumar A, Nisha B, Praveen VP, Nair V, Jayakumar RV, Harish Kumar., Turner Syndrome and its Variants. Indian Journal of Pediatrics. 2010; Volume 77, DOI- 10.1007/s12098-009-0226-7
- 7 Rovet J. Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile. Learning Disabilities Research & Practice. 2004; 19(3), 133–145.
- 8 Chander NV, Ahmed EF. Turner's Syndrome Variant with Three Cell Line Mosaicism and Ring X Chromosome (45, X /46,X r(X)(p21 q25)/46,Xx) in A Saudi Patient. Bahrain Medical Bulletin. 2001; Vol.23, No.1.
- 9 Sybert VP and McCauley E. Turner's Syndrome. N Engl J Med. 2004; 351:1227-38.
- 10 Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K. Turner Syndrome and Xp Deletions: Clinical and Molecular Studies in 47 Patients. The Journal of Clinical Endocrinology & Metabolism. 2001; 86(11):5498–5508.