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.

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.

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.

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.

Down Syndrome : Acrocentric Association.

Acrocentric association in Down Syndrome is a widely debated phenomenon. The present study on a total of 68 subjects from South India revealed that the incidence of Down Syndrome is increased with an increased frequency of association of acrocentric chromosomes in their parents.

Familial marker in a Down Syndrome Child.

Four months old, female child, referred for cytogenetic analysis, showed mosaiciam for the marker chromosome. Her karyotype: 47,XX,+21/48,XX+21 mar (pat). The karyotype of her mother & her sib were normal. Her father showed, similar to the proband, mosaicism for the marker ie 46,XY/47,XY, + mar. AgNOR technique determined the marker as fused short arms of the acrocentric chromosome. Four months old, female child, referred for cytogenetic analysis, showed mosaiciam for the marker chromosome. Her karyotype: 47,XX,+21/48,XX+21 mar (pat). The karyotype of her mother & her sib were normal. Her father showed, similar to the proband, mosaicism for the marker ie 46,XY/47,XY, + mar. AgNOR technique determined the marker as fused short arms of the acrocentric chromosome.