Menstrual history in women with down syndrome - A review

The parents of 130 Down Syndrome (DS) females aged 15 to 40 years were requested to pen the information about the menstrual cycle details. Only 10 responded to the request. In view of the absence of information on DS in India regarding menstrual history, the present investigation has been undertaken. It has given the following observations: The axillary and pubic hair is present in most of the females. Most of them have a normal voice. As for the menstrual history, the age of onset of menstruation was at an average age of 15.5 years, the previous and the present menstrual history are normal in most of them. None of the females have pain during menstruation, premenstrual tension or mid menstrual pain or spotting. Most of them need help in changing sanitary pads. One has been hysterectomized. Hence, appropriate regular gynecological care is emphasized

Karyotyping and counseling in bad obstetric history and infertility

Background: Division of Human Genetics (DHG) is a referral center for karyotyping and counseling to the couples as well as to the individuals referred with bad obstetric history and infertility. Materials and Methods: From 1972 to 2003, overall 1666 couples and 131 female partners with bad obstetric history (BOH) such as; spontaneous abortions, live births with congenital malformations and still born and 73 infertile male partners have been referred for chromosomal analysis. Results: The chromosomal abnormality was found in 4.4% (83) of the sample studied. Chromosomal abnormality was seen in 56 couples (3.4%), 15 female (11.5%) and 12 male (16.4%) partners. The numerical chromosomal abnormality were seen in 34 (41%) and the structural abnormalities in 49 (59%) cases. The numerical chromosomal abnormalities were associated with sex chromosomes as follows (the number of cases are shown in parenthesis): 47, XXY (9); 46, XY/ 47, XXY (2); 46, XY/ 48, XXXY (1); 46, XY/ 47, XYY (2) and X mosaicism; 45, X/ 46, XX (14); 46, XX/ 47, XXX (6). The structural anomalies were 40 translocations and 9 duplication/ deletion/ marker/ iso chromosome for the X chromosome; Male: 46,XY/ 47,XY+ mar (1); Female: 45,X/ 47,XX+mar (1); 46,XX/ 47,XX+mar (1); 47,XX+frag (1); 46,X,Xq- (2); 46,X,Xp- (1); 46,X,Xp+ (1); 45,X/46,X,i(Xq)(1). The frequently involved chromosomes in the translocations were 4, 11, 15 and X. There were three X; autosomal translocations and a unique combination of translocation 1; 15 in the parents of a female carrier and 13; 14 in a non- consanguineous couple. On the whole, 57.5% of the females (23/ 40) were translocation carriers. Non-significant chromosome polymorphisms were observed in 79 cases (4.2%). Conclusion: The current study has demonstrated the presence of the chromosomal abnormality and its influence in reproductive failure. On an average, in this study one in 56 couple and one in 12 males with infertility or one in 15 females with BOH has had a chromosomal abnormality as the genetic cause. The identification of chromosomal abnormality as the etiology has facilitated the counseling and appropriate management

Features on the dorsal surface of the sacrum

Background and Aims: The present study was undertaken to report the observed variations in the features on the dorsal surface of the sacrum. Materials and Methods: Twelve female and 10 male sacra were used for the study. The studied features on the dorsum of the sacrum include sacral hiatus, spinous and articular tubercles (AT) of the median and intermediate sacral crests and sacral foramina. Results: The apex of the sacral hiatus was an inverted V in 10 and a U in 12 (54.5%) sacra. The apex was located between S3 and S4 in 12 (54.6%) and the base at S4 in 21 (95.5%) sacra. Spinal tubercles (ST) and AT were absent in two each of the sacra. Sacral foramina were seen five in one male sacrum along with ossified sacrococcygeal joint. In two female and two male sacra, sacralization of the 5 th lumbar vertebra were noted. Six features were a common occurrence in more than 50% of the female and male sacra: U-shaped apex; apex location between S3 and S4; base location below S4; medium length of hiatus with apex between S3 and S4; three numbers of ST; and four numbers of sacral foramina. Three features were commonly seen for the female sacra: U apex between S3 and S4; base below S4; and four numbers of AT. For the male sacra, the four common features were: V-shaped apex; base below S4; three AT; and circular sacral foramina. Conclusion: The implications from the findings of the present study are directed toward the importance of the variations in the features of the dorsal surface of the female and male sacra for any procedures involving caudal epidural anesthesia

Case Report - Down syndrome with Fragment X - A case Report

This article reports a case of four-month-old female infant referred to Division of Human Genetics, St. Johns' Medical College, for karyotyping with suspicion of Down syndrome. On karyotyping all analysed spreads showed trisomy 21 but a few spreads (6.66%) showed fragment X. X was broken at the centromere and both short and long arms were present in the spread. GTG bands of the two fragments correlated with the normal X counter parts. The mechanism behind isochromosome formation is discussed. Thus, this case is free trisomy 21 for Down syndrome and a mosaic for the X structural anomaly

Qualitative Dermatoglyphics In Idiopathic Epilepsy

Genetic aetiology has been proposed for both idiopathic epilepsy and dermatoglyphics. Hence, the present study has been undertaken to find out the existence of any correlation between dermatoglyphics and idiopathic epilepsy. Material consisted of 100 patients (58 males and 42 females) and 100 controls (52 males and 48 females). Patient′s age ranged from 5 to 40 years and controls were between 18 and 25 years. Dermatoglyphics were obtained by painting method. Qualitative parameters observed were percentage frequency of fingerprint patterns (loops, whorls and arches,), patterns in hypothenar area/ interdigital are and flexion creases (Simian crease, sydney line). On comparison with controls, in males, with hands combined, loops (52.24%) and arches (7.93%) were increased and whorls (39.83%) were decreased (p<0.05). In females, with hands combined, arches (13.1%) and whorls (36.43%) were increased and loops (50.48%) were decreased (p< 0.03). Significant differences have not been observed for the patterns in hypothenar area /interdigital area and flexion creases. These dermatoglyphics features could be used as additional markers to evaluate patients of epilepsy

Mitotic index in Down syndrome - Is it an indicator of immunological status

Down syndrome (DS) is a condition in which the genes on chromosome 21 occur in three copies. This is supposed to influence the growth in the tissues of the body and this could lead to a decreased mitotic index. In view of this, the present investigation was carried out using peripheral lymphocyte culture to find out whether there is a change in mitotic index in DS patients. Mitotic index in male and female patients was reduced to an average of 3.64 and 3.82 respectively. Thus, the index could be an indicator of the reduced immunological status of the individual with DS

Dermatoglyphics in rheumatoid arthritis

Patients with rheumatoid arthritis have been referred to Division of Human Genetics for counselling. Qualitative dermatoglyphics comprising of finger print pattern, interdigital pattern, hypothenar pattern and palmar crease were studied on 26 female and 11 male rheumatoid arthritis patients. Comparison between patient male and control male; and patient female and control female has been done. 'Chi' square test was performed. In male patients, with hands together, arches were increased, loops/whorls were decreased. Partial Simian crease was significantly increased. In the right hand, patterns were increased in the 3rd interdigital area. On the other hand, in female patients there was a significant increase in whorls and decrease in loops on the first finger on both the hands, increase in arches on the 3rd finger; both arches and whorls on the 4th finger of left hand. Present study has emphasized that dermatoglyphics could be applied as a diagnostic tool to patients with rheumatoid arthritis

A novel human sex-determining gene linked to Xp11.21-11.23

Context: The molecular basis for about 70-80% of 46,XY sex-reversed females remains unexplained, because they carry normal copies of the genes (SRY, SOX9, DAX1, DMRT, SF1, WT1) involved in sex determination pathway. Objective: The objective of this study is to map the chromosomal locus responsible for an unexplained sex-reversed phenotype. Design: The study implemented a genome-wide scan using families with multiple sex-reversed individuals. Setting: The patients, along with the family members, were selected from different hospitals/reproductive centers. Participants: Sex-reversed individuals and their siblings and parents participated in the study. Main Outcome Measures: Identification of the chromosomal locus responsible for sex reversal in these families and sequence analysis of candidate genes were the main outcome measures. Results: Parametric linkage analysis revealed a maximum two-point LOD score of 5.70 with marker DXS991 (Xp11.21) and 4.57 with marker DXS1039 (Xp11.23-Xp11.22), and a multipoint LOD score of 5.77 with marker DXS991 and 5.22 with marker DXS1039. The two markers (DXS991 and DXS1039) with highest LOD score span approximately 3.41 cM (75.79-79.2 cM) on the short arm of the X-chromosome. Conclusion: Our findings provide evidence for a major susceptibility locus for sex reversal/gonadal dysgenesis on the short arm of the X-chromosome (Xp11.21-11.23). Furthermore, molecular exploration of the expression of candidate genes in the embryonic gonad/gonadal ridge will help in the identification of the underlying gene for sex reversal