Microalbuminuria in women with gestational hypertension.

Background: Gestational hypertension (BP ≥ 140/90 mm of Hg without proteinuria) is classified under hypertensive disorders of pregnancy (HDP). HDP causes widespread endothelial dysfunction leading to hypertension and damage to vital organs such as liver, kidney, brain etc. Damage to kidney may lead to elevation in urinary excretion of albumin which can be used for predicting severity of the disease. Aims & Objective: This study was done to detect presence of microalbuminuria and to evaluate role of its estimation among women with gestational hypertension and normal pregnancy. Material and Methods: Case control study was done taking 40 women with gestational hypertension as cases and 40 age matched healthy pregnant women as controls. Urinary concentration of albumin was measured using immunoturbidimetry kit. Statistical analysis was done using SPSS 17.0. Results: Urinary excretion of albumin was significantly increased in women with gestational hypertension compared with controls. Its level significantly positively correlated with systolic and diastolic blood pressure. Conclusion: Urinary albumin excretion gradually increases as the disease severity increases. Early & regular monitoring for microalbuminuria in women with gestational hypertension may give a clue of disease severity and associated organ damage.

Segregation of acrocentric chromosome association in familial dicentric Robertsonian translocation t(14p;22p), aneuploidy (trisomy-21) and heteromorphism.

The frequency and types of acrocentric chromosome association were quantitatively analysed in a Down syndrome child with unusual karyotype, 46, XX, -14, -22, t dic (14p;22p), +21, 21S+. Father and 4 sibs were heterozygous carriers for t dic (14p;22p). The variant 21S+ was inherited from the mother. The occurrence of translocation and trisomy in the same individual is extremely rare. Acrocentric chromosome association was analysed in this interesting family to understand the interrelationship of acrocentric chromosome association, Robertsonian translocation and heteromorphism, as possible predisposing factors for nondisjunction. Our findings suggest that acrocentric chromosome association is a heritable and nonrandom phenomenon. Heterozygous carriers for translocations and variants are likely to be at increased risk of nondisjunction. Long term family studies will enable to ascertain the causal-relationship of these factors more precisely.

Cytogenetic studies in a population suspected to have chromosomal abnormalities.

The present study describes the cytogenetic findings in cases suspected with chromosomal abnormalities, in cases of mental retardation, multiple congenital malformations, clinical features of Down's syndrome, Klinefelter's syndrome, Turner's syndrome, ambiguous sex, sterility, amenorrhea and history of repeated spontaneous abortions in couples. Cytogenetic studies were done in 144 of the total 205 cases. In all, 57 (39.58%) were shown to have chromosomal abnormality and of these, 34 cases (25.7%) were Down's syndrome. Sex chromosome abnormality was found in 19 cases (13.2%). The results confirm the significant contribution of chromosomal abnormalities in the genesis of mental retardation, and abnormal sexual development.

Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation.

A child with fragile secondary constriction 2q11 associated with unusual clinical features and psychomotor retardation is described. The pathogenetic significance of this fragile site still remains unclear, and heterogeneity of clinical manifestations is not well understood.

Nucleolar organizer region heteromorphism associated with trisomy-21: a risk factor for non-disjunction?

An unusual nucleolar organizer region (double NOR) on chromosome 13 was observed in a Down syndrome child [47, XY, +21, dNOR(13)]. The variant chromosome was inherited from the mother [46, XX, dNOR(13)]. The extra chromosome 21 in the proband was maternal origin. The frequency of NOR chromosome association showed relatively high frequency in the mother and proband as compared to the controls. The result suggest that chromosome variants involving extra copies of NOR may indeed be involved in the meiotic nondisjunction of chromosome-21.