Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

Abstract

BackgroundMonosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to describe the cytogenetic characteristics of 45,X individuals. To the best of our knowledge, there were no large series of 45,X cases has been reported from Indonesia.ResultsNinety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. Using karyotyping 37 out of 91 cases(40.6%) were identified as 45,X individuals, while cases who underwent FISH only 4 out of 35 cases (11.4%) showed 45,X result, resulting in total of 39 45,X cases (41.1%), and the rest 56 (58.9%) cases are mosaic. Among these cases, 21 out of 95 (22.1%) have Y or part of Y as the second or third sex chromosome in their additional cell lines. Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46,XX or 46,XY karyotypes, but by FISH, additional monosomy × cell line was found. Most of the cases were referred at the age of puberty (8-13 years old) or after that (14-18 years old), 31 and 21 cases respectively, and there were 14 cases were sent in adulthood.ConclusionWide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22/31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously.

Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients

“…While patients with mosaicism for 46,XY cell line or structural rearrangement of the Y chromosome mostly have masculinized external genitalia and are at increased risk for having gonadoblastoma and other gonadal tumor. 12,20,21 Thus, early intervention should be done for orchidectomy. 22 In this study we observed 1 patient with marker chromosome 45,X(98%)/46,X mar(2%) with clinical profile of this patient showed short stature and no other dysmorphic features, compared to the previous study which reported severe phenotype manifestations in those type of Turner variants, 16 this could be due to the low percentage of marker X.…”

“…Furthermore, conventional cytogenetic method can missed the Y component up to 9.3%. 21 Detection of Y chromosome complement and their composition is important in genetic counseling, because of the association with the risk of gonadoplastoma. 9,12,20 In this study the most common cause of primary amenorrhea was gonadal dysgenesis Turner Syndrome followed by MRKH, pure gonadal dysgenesis, CAH, CAIS and PAIS.…”

Analysis of Turner Syndrome Patients within the Jordanian Population, with a Focus on Four Patients with Y Chromosome Abnormalities

“…Similar reasoning could be used in case 3, where the male patient, although carrying a duplicated Y fragment, presented with ambiguous genitalia and undescended testes. Y chromosome aberrations, especially of the isodicentric type are known to be very unstable during cell division, generating alternating cell lines [Marzuki et al, 2011]. Lungeanu et al [2008] suggested that in these isodicentric aberrations initially both centromeres of the Y chromosome were completely functional and that the loss of this chromosome through failure of correct mitotic segregation and anaphase produced increasing amounts of 45,X cells, thus leading to TS.…”

A Rare Karyotype of Turner Syndrome: 45.X/47.XXX

“…Sendroma neden olan karyotipik anomaliler içerisindeensıkmonozomiX(45,X)görülürken,bunu mozaikkaryotipler(45,X/46,XX,45,X/47,XXXvs)ve Xkromozomununyapısalanormallikleri(izokromozom X(i(X)),ringX(r(X))takipeder (1,(3)(4)(5).…”