Isochromosome Xq in Mosaic Turner syndrome
نویسندگان
چکیده
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: 45,X(4%)/ 47,X,i(X)(q10), i(X)(q10)(8%)/ 46,X,i(X)(q10)(88%). Proband has expressed X numerical anomaly for the constitutional X structural anomaly. Proband and family were counseled about education, career, appropriate medical management and hormonal therapy.
منابع مشابه
Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases.
A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was Down syndrome and Turner syndrome in abnormalities of sex chromosome. The proportions of different karyotypes in Down syndrome (trisomy 21 92.5%, translocation 5.1%, mosaic 2....
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