Cytogenetic and clinic evaluation of two cases that have 45,X/46,X,i(Xq) and 46,X,i(Xq) karyotype

Akbaş, Etem; Yazici, Faik Gürkan; Durukan, Hüseyin; Topal, Harika; Erdoğan, Nazan Eras

doi:10.5799/ahinjs.01.2014.03.0436

Cited by 2 publications

(4 citation statements)

References 12 publications

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“… 4 There have only been five cases of alopecia in TS reported worldwide. 8 , 11 One case had a karyotype of 45,XX/45,X 7 while the specific karyotypes of the other 4 cases 10 were not mentioned.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…The prevalence of isochromosome mosaic karyotype is 8 -9%. 1,7 In the Philippines, TS comprises about 80% of all sex chromosome abnormalities, of which 38.9% had the classic pure monosomy X while only 15% had the isochromosome mosaic variant. 2 The typical manifestations for Turner Syndrome are short stature, gonadal dysgenesis, characteristic facial features, webbed neck, low posterior hairline, broad chest with widely spaced nipples, nevi all over the body, shortened metacarpals, small fingernails, poor breast development, and renal and cardiovascular anomalies.…”

Section: Discussionmentioning

confidence: 99%

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Isochromosome Mosaic Turner Syndrome: A Case Report

Llanes¹,

Uyking-Naranjo²

2019

JAFES

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Turner syndrome (TS) with an isochromosome mosaic karyotype 45,X/46,X,i(X) (q10) is an unusual variant, with only an 8-9% prevalence among women with TS based on international studies and 15% of all TS in the Philippines. Clinical features are atypical and any case should be investigated to detect potential complications.A 20-year-old female came in due to amenorrhea and alopecia. Physical examination revealed short stature, cubitus valgus and Tanner Stage 1 pubic hair and breast development. Transrectal ultrasound revealed absent ovaries and infantile uterus. Hormonal evaluation revealed hypergonadotropic hypogonadism. Bone aging was that of a 13-yearold for females with non-fusion of epiphyseal plates. Cytogenetic study revealed 45,X [37]/46, X, i (X) (q10) [13]. This is consistent with a variant Isochromosome Mosaic Turner Syndrome (IMTS). She was screened for medical complications. Audiogram and two-dimensional echocardiography were unremarkable. She has dyslipidemia and was given a statin. She has subclinical hypothyroidism with positive test for anti-thyroglobulin antibody. Her intelligence quotient (IQ) was below average. She received conjugated estrogen and progesterone that patterned the hormonal changes in a normal menstrual cycle. On the third week of hormonal therapy, she developed breast mound and on the fourth week, she had her first menstrual period. Her alopecia spontaneously resolved.The case is a variant of Turner Syndrome requiring supportive, medical and psychological care.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Isochromosome Mosaic Turner Syndrome: A Case Report

Llanes¹,

Uyking-Naranjo²

2019

JAFES

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“…Our two patients also received a diagnosis at a late age, 25 and 17 years, respectively. Among the mosaic variants of TS, the most common form of mosaicism is 45,XO/46,XX (15%) [ 13 ], while 45,XO/46X,iso(Xq) mosaicism is a rare entity (8%-9%) [ 12 , 14 ], which includes both the cell line with the pathological cytogenetic structure and structural abnormality of the normal X chromosome. These patients with mosaic TS may have a near-normal phenotype rather than typical TS features.…”

Section: Discussionmentioning

confidence: 99%

Turner Syndrome With Isochromosome Structural Abnormalities: A Case Report

Ferdousi,

Banu,

Sultana

et al. 2023

Cureus

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Turner syndrome (TS) is the most common cause of short stature and delayed puberty in females. Approximately half of the patients have the classic form with a genotype of 45,XO, one-fourth of patients have different mosaic forms, and the remaining one-fourth have structural abnormalities on the X chromosome. Among the structural abnormalities, the most common is isochromosome Xq. Females with structural variants of TS can present with delayed menarche, amenorrhea, and infertility rather than classic manifestations of TS.This study describes two rare variants of TS. One was a structural abnormality on the X chromosome, 46X,iso(Xq), and the other involves a mosaic variety of TS, including isochromosome X in the form of 45,XO/46X,iso(Xq). Both patients presented with short stature and secondary amenorrhea without classic manifestations of TS.In TS with or without mosaicism, the frequency of isochromosomes is reported to be about 15% to 18%. Owing to the absence of classical manifestations of TS, diagnosis may be delayed or missed. Therefore, females of short stature with secondary amenorrhea should be evaluated for rare variants of TS by chromosomal analysis.

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Cytogenetic and clinic evaluation of two cases that have 45,X/46,X,i(Xq) and 46,X,i(Xq) karyotype

Abstract: Cytogenetic and clinical evaluation of two cases with 45,X/46,X,i(Xq) and 46,X,i(Xq) karyotype 45,X/46,X,i(Xq) ve 46,X,i(Xq) Karyotipi gösteren iki olgunun klinik ve sitogenetik yönden değerlendirilmesi

Cited by 2 publications

References 12 publications

Isochromosome Mosaic Turner Syndrome: A Case Report

Isochromosome Mosaic Turner Syndrome: A Case Report

Turner Syndrome With Isochromosome Structural Abnormalities: A Case Report

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