Cytogenetic Analysis of 1400 Referral Cases: Manipal Experience

Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

“…The prevalence of chromosomal abnormalities in Sri Lankan children has been compared with Caucasian and other Asian populations. [3,5,9,10,12] The high prevalence in the present study is probably due to the fact that the study was carried out exclusively among children who were referred for cytogenetic analysis of suspected chromosomal disorders. Even though prenatal diagnostic techniques such as amniocentesis, cordocentesis, ultrasonography and maternal serum screening are available in this country, the continuing legal prohibition on termination of pregnancies for fetal indications implies that the prevalence of children born with chromosomal disorders will continue to be high.…”

“…Other reasons for the difference in prevalence reported in these studies may be due to the varied inclusion criteria of patients, the cytogenetic methods used and the discordance of classification criteria. [5] Both adults and children were included in other studies [3,5,9,[12][13][14] and only few were conducted exclusively among children suspected of chromosomal disorders. [15,16] The majority of chromosomal abnormalities observed in this study were numerical abnormalities (45.9%).…”

“…Similar fi ndings were reported by Duarte et al [5] in a study on 916 patients from all age groups where TS mosaicism (53.6%) was commoner than monosomy TS (28.6%). Kim et al [9] in South Korea and Rajasekhar et al [12] in India also reported that the proportion of TS mosaics was higher than that of classic TS. However, an Indian study [22] found that in 45 cases of TS, the most commonly observed karyotype was 45,X (44.4%), followed by 45,X/46,XX mosaicism (24.4%).…”

“…This percent was relatively lower than those found in several Indian studies. [12,21] Rajasekhar et al [12] reported a higher proportion (14.9%) of XY females among 1400 referral cases in India, whereas another study [21] on 30 Indian patients with disorders of sex development in Coimbatore city identified 10 (33.3%) XY females. The study population in both studies included children and adults who may have contributed to the higher frequencies reported.…”

“…TS is commonly diagnosed at puberty because of failure of sexual maturation resulting from ovarian dysgenesis. [12] However, an increasing number of patients are now being recognized during infancy and childhood because of clinicians' increased awareness of other stigmata such as peripheral lymphedema, growth failure, short stature, webbed neck, shield chest, low posterior hairline, pigmented nevi, hypoplastic nails, short fourth metacarpals and coarctation of the aorta. [2] In this study, TS variants (54.0%) were found to be commoner than the classic 45,X karyotype (46.0%).…”