A rare case of an isochromosome mosaic turner syndrome
Publication Date
2000
Document Type
Research
Abstract
Turner syndrome is characterized by a complete or partial absence of one X chromosome. The most common karyotype is 45,X. A variant of turner syndrome is Isochromosome Mosaic Turner Syndrome which presents with an abnormality of the chromosome structure. A 22 year old female presented with short neck, widely spaced nipples, low posterior hairline, absence of nose bridge, minimal axillary hair and underdeveloped breasts. Ultrasound examination showed an infantile uterus measuring 2.3 x 2.2 x 0.7 cm with small ovaries. Her karyotype showed an isochromosome of the long arm of the X chromosome and the remaining eight cells showed a loss of one X chromosome, resulting in monosomy X (ISCN: 46,X,i(X)(q10)[42]/45,X[8]). Hormonal evaluation showed a hypergonadotropic and hypogonadism state. Tests for auditory, opthalmologic, cardiac and renal functions were all within normal limits. The patient was diagnosed with Isochromosome Mosaic Turner Syndrome and started on hormonal therapy.
APA Citation
Gatchalian, Sara Danielle T. and Capco-Dichoso, Marian, "A rare case of an isochromosome mosaic turner syndrome" (2000). Resident Research. 98.
https://greenprints.dlshsi.edu.ph/resident-research/98