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• W65435055 abstract "Summary: Analysis of the SRY gene in a girl with 45,X/46,XY genotype: We present a Turner syndrome patient with a 45,X/46, XY mosaicism. A seven years-old patient was admitted to our laboratory for evaluation of Turner Syndrome. On physical examination, short stature, a webbed neck, a broad chest with widely spaced nipples, syndactyly on toes, horse shoe kidney and typical findings of aortic coarctation were present. The chromosome karyotype of the patient was 45 X/46 XY. Molecular analysis of the blood lymphocytes confirmed the presence of the SRY gene of the patient. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism. Key-Words: Sex Chromosome Mosaicism - Turner Syndrome - SRY gene. INTRODUCTION The genetic sex of the embryo is established at fertilization, the phenotypic sex determining process is set in motion during organogenesis. Apart from sex specific genes present on X and Y chromosomes, autosomal genes also play a role in sex determination (2). Any alteration in these genes or in the sex chromosomes, leads to abnormalities of sexual development, ranging from complete sex reversal to hermaphroditism (10). Turner syndrome is diagnosed in females with partial or complete absence of one X chromosome (45,X karyotype). Monosomy X may arise from meiotic non-disjunction or anaphase lagging during spermatogenesis, oogenesis or from postzygotic error. Clinical manifestations vary and may be subtle, but they usually include short stature, a webbed neck, a broad chest with widely spaced nipples, cubitus valgus, congenital lymphedema, and a lack of spontaneous pubertal development from ovarian sex hormone insufficiency, a low posterior hairline, misshapen or rotated ears, a narrow palate with crowded teeth, hyperconvex nails, multipigmented nevi and cardiac malformation (12). The presentation of Turner syndrome varies throughout a patient's life. The diagnosis should be considered in a female fetus with hydrops, increased nuchal translucency, cystic hygroma, or lymphedema. At any age, Turner syndrome may be difficult to recognize clinically because the characteristic facial features can be subtle. Key clinical features of Turner syndrome are a lack of breast development or amenorrhea, with elevated follicle-stimulating hormone levels by 14 years of age; and infertility in women. The incidence of 45,X is approximately 1 in 2000 to 1 in 5000 live female births (5). Turner syndrome occurs in one out of 2,500 to 3,000 live female births; however, many more 45,X conceptuses do not survive past the first trimester. Ninety-nine percent of conceptuses with a 45,X karyotype abort spontaneously; Turner syndrome causes 10 percent of all first-trimester miscarriages. Unlike with Down syndrome, maternal age does not increase the risk of Turner syndrome, and there are no clearly established risk factors. Some researchers believe that all live born females with Turner's syndrome have a cell line containing two sex chromosomes that may be present at a low level of mosacism (9). Nishi et al. (13) observed that frequency of the Y chromosome sequences in patients with TS varies from 0% to 61% depending on the molecular methodology used and in their cases the most frequent karyotype was 45, X (54%) followed by mosaicism involving structural aberration of X chromosome. Ganguly and Sahni (6) reported that only 1% of the pureline 45, X conceptions are viable, indicating the necessity of mosaicism with X or Y chromosome. Fernandez-Garcia et al. (4) performed G banding, FISH, and PCR for SRY in 41 cases of Turner's syndrome and reported 2 cases with Y chromosome mosaicism and 4 cases with 45,X. Gravholt et al. (8) examined 114 females with Turner's syndrome for the presence of Y chromosome material by PCR and found that fourteen cases had Y chromosome material. The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma (11). …" @default.
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• W65435055 title "Analysis of the SRY gene in a girl with 45,X/46,XY genotype." @default.
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