A dysmorphic male child of 8 months age presented with microphthalmia, micrognathia, hypertelorism, wide anterior fontanelles, large forehead, short neck, prominent ears, macrotestis and delayed developmental milestones. The patient presented with generalised seizures hydrocephalaus and Coarctation of aorta (Pre subclavian). He also had mild hypocalcaemia with normal renal function. Cytogenetic study revealed 18p(-) picture due to translocation between 14 p & 18q. Since the spectrum of clinical expression is similar to that is seen in 18p(-) syndrome it is suggested that not only whole of 18p but part of chromosome no. 18 proximal to 18 q 11.2 may also be involved in this phenotype.

Abnormalities, Multiple↗

PubMedDate not supplied

Action of mitomycin C on testicular steroidogenesis and its probable mode of action in albino rats.

Testicular steroidogenesis was determined by radioimmuno assay of serum testosterone and histochemical demonstration of the key steroidogenic enzyme (delta 5 3 beta hydroxysteroid dehydrogenase) activity in the Leydig cells after treatment with mitomycin C (mc), (500 microgram/kg, Bwt). In vivo experiments showed mc treatment causes a remarkable fall of serum testosterone level along with significant reduction in the weights of testis and sex accessories. In vitro studies resulted in a diminution in the delta 5 3 beta hydroxysteroid dehydrogenase and glucose-6-phosphate dehydrogenase activity in the section of the testis after addition of mc (100, 200 microgram/ml) in the incubation medium. The consideration of the above findings coroborated to the suggestion that mc reduced testicular steroidogenesis.

3-Hydroxysteroid Dehydrogenases↗

PubMedDate not supplied

Prenatal diagnosis of haemophilia: a preliminary report.

BACKGROUND: Haemophilia A is the most common congenital bleeding disorder seen in man, affecting one in 5000 to 10,000 males. Because of the large size and heterogeneity of mutations in the factor VIII gene, direct detection of mutations is not practically feasible, except the recently detected intron 22 inversions. Hence, the indirect method of gene tracking using various polymorphic markers is the method of choice. Using this approach, we have performed antenatal diagnosis in four haemophilia A families. METHODS: The four families included 21 subjects who were used for gene-tracking analysis. Two families had a positive history with more than one member affected, while the remaining two families had a negative history with only one affected son. In all four families, the propositi and their affected relatives had severe haemophilia A with factor VIII:C less than 1%. All were negative for inhibitors. The polymorphic markers used were IVS 18 Bcl I, IVS 19 Hind III and the extragenic DXS 52 St 14 of the factor VIII gene. Prior to polymorphism analysis, the sex of the foetus was determined using Y chromosome-specific primers. All the analyses were carried out by polymerase chain reaction. RESULTS: Antenatal diagnosis in the four families showed three normal male foetuses and one normal female foetus. Two families provided evidence with only IVS 18 Bcl I and St 14 markers. One family provided information with only intron 19 Hind III marker. The fourth family provided information with all three markers. The coagulation parameters were almost in agreement with the results of DNA analysis. CONCLUSION: All three polymorphic markers yielded information. This suggests that these three markers can be effectively used in the antenatal diagnosis of haemophilia A in Indian families.

Chorionic Villi Sampling↗

PubMedDate not supplied

Carrier detection and prenatal diagnosis in families with haemophilia.

BACKGROUND: Haemophilias are the commonest X-linked disorders affecting approximately 1 in 10,000 male births. Detection of carrier women in families with haemophilia and subsequent antenatal diagnosis of confirmed carriers are important services for these patients and their relatives. Over the last 6 years we performed carrier detection and antenatal diagnosis in families with patients of haemophilia A and B. METHODS: During the last 6 years, 159 families with haemophilia A and B were analysed for carrier detection by DNA analysis, using various polymorphic markers of factors VIII and IX genes. The polymorphisms used were intron 18 Bcl I, intron 19 Hind III, intron 22 Xbal and DXS52/St14 of the factor VIII gene and intron I Ddel, intron 4 Taql, 3 Hhal and Residue 148 codon Mnll of the factor IX gene. There were 189 probable carriers (whose carrier status was not known) and 99 obligatory carriers (confirmed carriers by family pedigree analysis) from 102 families with haemophilia A. Of the 57 families with haemophilia B analysed, there were 98 probable and 52 obligatory carriers. All the analyses were carried out by polymerase chain reaction. For antenatal diagnosis, prior to polymorphism analysis, the sex of the foetus was detected by Y chromosome-specific amplification. RESULTS: One hundred and four females were diagnosed as carriers and 63 as non-carriers by the intragenic polymorphic markers in families with haemophilia A. Eighteen women were informative with only the extragenic marker of factor VIII gene. Four women were not informative with any of the markers used. In families with haemophilia B, 37 women were diagnosed as carriers and 34 as non-carriers by the intragenic markers and 34 were informative only with the extragenic markers. Seventeen women were not informative with any of the markers used. Of the 25 antenatal diagnoses performed (20 haemophilia A, 5 haemophilia B) using the same markers as those used in carrier detection, 14 were male foetuses and 11 female as detected by Y chromosome-specific polymerase chain reaction. Eight were affected males and 6 unaffected. Among the females, 5 were carriers and 6 normal. CONCLUSION: Using the above polymorphic markers of factors VIII and IX genes, a diagnosis could be made in the majority of families.

Factor IX↗

PubMedDate not supplied

Splenomegaly in school children in a remote tribal area of Dhole district, Maharashtra.

Sickle-cell gene is known to protect against P. falciparum infection and provides a selective survival advantage in those areas where P. falciparum infection is endemic. This protection is not absolute and many other factors, inherited and acquired also contribute to the immunity against P. falciparum infection. We investigated incidence of splenomegaly and typical history of malaria in the past two years in apparently healthy school children in a tribal area in Dhole district of Maharashtra to see whether the incidence of malaria (splenomegaly and typical history) was different in children having sickle-cell trait to that of those who did not have this trait. A total of 480 school children were clinically examined for splenomegaly and history of typical malaria fever and/or blood slide positivity for malaria in the past two years. About 9.55 per cent of normal population had either splenomegaly or convincing history of malarial infection in the past two years which is not statistically different from the sickle-cell trait patients having evidence of past malaria (8.79 per cent; p > 0.05).

Adolescent↗

PubMedDate not supplied

Clinical examination and hematological data in asymptomatic & apparently healthy school children in a boarding school in a tribal area.

In a boarding school of Maharashtra State of India 314 students (Bhil & Pawar) were examined clinically and blood was examined. Anemia was present in 16.2% male & 38.3% female. B (Beta). Thalasemia trait was present in 1.6% male & 2.4% female. Sickle cell trait was present in 21.3% male and 14.4% female and sickle cell disease in 0.6% student. G6PD deficiency was seen in 5.1% male & 4.8% female students.

Adolescent↗