45,X/47,X,i(X)(q10),i(X)(q10)/46,X,i(X)(q10) Isochromosome Xq in Mosaic Turner syndrome
نویسندگان
چکیده
منابع مشابه
Isochromosome Xq in Mosaic Turner syndrome
A 17-year old female has been referred for karyotyping and genetic counseling. Proband had primary amenorrhea, short stature and poorly developed secondary sexual characteristics. Ultrasound scanning showed hypoplastic uterus and gonadal dysgensis. Chromosomal analysis revealed the mosaic status for the isochromosome formation in the long arm of X, i(Xq). Proband had 3 cell lines. Her karyotype...
متن کاملTurner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced transloc...
متن کاملSupernumerary chromosomes in mosaic Turner syndrome.
The finding of a supernumerary or marker chromosome in a karyotype poses difficulty in genetic counselling. The true incidence and significance of this chromosomal aberration is unknown in Malaysia. We report two patients who presented with supernumerary chromosomes in mosaic Turner syndrome.
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A 28 year-old female with a four year history of primary infertility, oligomenorrhoea and menorrhagia presented to the sub-fertility clinic at our institution for further investigations. Her short stature (141 cm) and obesity (73 kg; body mass index 36.7 kg/m) prompted karyotype testing which confirmed mosaic Turner syndrome. Otherwise, she had had poorly controlled hypertension for many years ...
متن کاملTurner syndrome isochromosome karyotype correlates with decreased dental crown width.
The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width. Primary and permanent mesio-distal crown width was measured on plaster casts from 112 TS females. The influence on crown width of four karyotypes: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other...
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ژورنال
عنوان ژورنال: INTERNATIONAL JOURNAL OF HUMAN GENETICS
سال: 2010
ISSN: 0972-3757,2456-6330
DOI: 10.31901/24566330.2010/10.1-3.10