Turner Syndrome Case
ABNORMAL FEMALE KARYOTYPE CONSISTENT WITH MONOSOMY X AND TWO COPIES OF ISOCHROMOSOME MOSAIC TURNER SYNDROME (IMTS).
KARYOTYPE: mos 45,X[24]/ 46,X,i(X)(q10)[24]/ 47,X,i(X)(q10),i(X)(q10)[2]
Within the limits of standard cytogenetic methodologies, the chromosomes of the patient showed Abnormal Karyotype G-banding patterns with evidence of aneuploidy and with apparent structural abnormality or rearrangement.
This is an abnormal female chromosome karyotype with mosaic pattern with monosomy of chromosome X and few metaphases with one two copies of isochromosome X (mirror image) of both short and long arm of X chromosome resulting into a mosaic variant form of Turner syndrome. The chromosome analysis further reveals karyotype of 45,X/46,X,i(X)(q10)/47,X,i(X)(q10),i(X)(q10) a mosaic pattern with presence of three abnormal cell lines results were further verified though FISH studies (image attached).
ABOUT TURNER SYNDROME
The observed chromosome make could be associated with gonadal dysgenesis, partial dwarfism and can be presented with other wide spectrum of phenotypic manifestations of Turner syndrome (Santana J A M et.al J Lab Med August 1, 2012 43: 197-204). Isochromosome mosaic Turner Syndrome (IMTS) is a variant of Turner Syndrome (TS) characterized by a cytogenetic profile of 1 or more additional cell lineages aside from 45,X, and the presence of a structurally abnormal X chromosome consisting of either two short or two long arms. IMTS occurs in only 8-9% prevalence among women with TS based on international studies. (Sybert V, McCauley E. Turner’s syndrome. N Eng J Med. 2004;351(12):1227-38 PMID: 10.1056/NEJMra030360). The following possibilities, although rare, cannot be ruled out: a) low level mosaicism, b) very subtle rearrangements, c) genetic disorders that cannot be detected beyond the resolution of by standard cytogenetic methods.
RECOMMENDATIONS: Endocrine and/or genetic consultation is recommended. Growth Hormone (GH) therapy should be considered for every patient diagnosed with Turner Syndrome. Genetic Counseling for the family is strongly recommended.
