A CASE REPORT ON MATERNAL t (1;2) (q11; p11.1) AND ITS INHERITANCE

Balanced translocation in one of the partners may form faulty gametes and so it may be associated with infertility or recurrent miscarriages. Although, if same balanced translocation gets inherited then it gives rise to normal child. We report a case of non-consanguineous couple with the history of spontaneous abortion with bilateral dysplastic kidney in the foetus. Karyotyping of husband was normal and wife showed autosomal balanced translocation between q arm (11) of chromosome 1 and p arm (11.1) of chromosome 2. After doing genetic counselling for prenatal diagnosis, couple underwent prenatal diagnosis by chorionic villous and amniotic culture in two pregnancies respectively. In the first pregnancy, the female foetus inherited same translocation which mother carried and in the second pregnancy, male foetus inherited normal chromosomes from mother. Genetic counselling was done during both the pregnancies and couples continued the pregnancy. Inheritance of balanced translocation and normal chromosomes in next generation from mother having balanced translocation is rare to happen. Proper genetic for prenatal diagnosis will definitely help the couple to have normal children

Voice of Protest in Nepali Poetry by Women

This article explores feminist voice in selected poems of four Nepali female poets. They are: "Ma Eutā Chyātieko Poshtar" ["I, a Frayed Poster"] by Banira Giri, "Pothī Bāsnu Hudaina" ["A Hen Must not Crow"] by Kunta Sharma,"Ma Strī Arthāt Āimai"["I am a Female or a Woman"] by Seema Aavas and "Tuhāu Tyo Garvalai" ["Abort the Female Foetus"] by Pranika Koyu. In the selected poems they protest patriarchy and subvert patriarchal norms and values that trivialize women. The tone of their poems is sarcastic towards male chauvinism that treats women as a second-class citizen. The poets question and ridicule the restrictive feminine gender roles that limit women's opportunity. To examine the voice of protest against patriarchy in the selected poems, the article takes theoretical support from French feminism, though not limited to it. The finding of the article suggests that Nepali women have used the genre to the political end, as a medium to advocate women's rights.

Detection of cell-free foetal DNA fraction in female-foetus bearing pregnancies using X-chromosomal insertion/deletion polymorphisms examined by digital droplet PCR

In families with X-linked recessive diseases, foetal sex is determined prenatally by detection of Y-chromosomal sequences in cell-free foetal DNA (cffDNA) in maternal plasma. The same procedure is used to confirm the cffDNA presence during non-invasive prenatal RhD incompatibility testing but there are no generally accepted markers for the detection of cffDNA fraction in female-foetus bearing pregnancies. We present a methodology allowing the detection of paternal X-chromosomal alleles on maternal background and the confirmation of female sex of the foetus by positive amplification signals. Using digital droplet PCR (ddPCR) we examined X-chromosomal INDEL (insertion/deletion) polymorphisms: rs2307932, rs16397, rs16637, rs3048996, rs16680 in buccal swabs of 50 females to obtain the population data. For all INDELs, we determined the limits of detection for each ddPCR assay. We examined the cffDNA from 63 pregnant women bearing Y-chromosome negative foetuses. The analysis with this set of INDELs led to informative results in 66.67% of examined female-foetus bearing pregnancies. Although the population data predicted higher informativity (74%) we provided the proof of principle of this methodology. We successfully applied this methodology in prenatal diagnostics in a family with Wiscott–Aldrich syndrome and in pregnancies tested for the risk of RhD incompatibility.

Female Foeticide and Gender Inequality in India: Issue of Attention

In spite of a high rate of growth and ample government initiatives to maintain equality in case of gender , the gap between genders still exist in India. In India, based on their sex, gender variation is usually prescribed as the injustice or discrimination against women. Gender inequality limits women’s participation in various fields and it also hampers the life of the future generation also. Women are confronted with many hurdles in everywhere. Female foeticide is one of the worst types of discrimination against females where a female is refused her most essential and fundamental right, i.e. the right to live life. In India, female foeticide means outside of valid law, the abortion of a female foetus. In India, the recurrence of female foeticide is expanding day by day. In present day, it seems that the sex determination test leading to the practice of female foeticide overlooked and uncomplicated than before. Since ancient days, killing of female foetus is an extraordinary feature under the rule of patriarchy in Indian society. According to census report, the child sex ratio has decreased from 945 girls (0-6 years) per 1000 boys (0-6 years) in 1991 it is 927 girls per 1000 boys in 2001 to 919 girls per 1000 boys in 2011. The picture of female foeticide in North-East India is quite good as compared to the other states of India. As per the census 2011, Arunachal Pradesh has the highest child ratio among the Indian states i.e. 972 while Haryana has the lowest child sex ratio i.e. 834 per thousand males. According to decennial Indian census, the sex ratio in the 0 to 6 age group in India has risen from 102.4 males per 100 females in 1961, to 104.2 in 1980, to 107.5 in 2001, to 108.9 in 2011. On this background, here, an attempt has been made to examine the issue of female foeticide as an indicator of gender inequality in India. This paper is mostly descriptive in nature entirely based on secondary data.

Multiple abnormalities in a foetus: a possibility of multifactorial inheritance disorder

A female foetus of 3.23 kg was delivered by a primigravida of 23 years, after scanning by ultrasound, depicting findings of oligohydramnios and congenital abnormalities. The foetus showed bilateral polydactyly (six digits) in both upper and lower limbs, polycystic enlarged bilateral kidneys, anencephaly, hypoplastic lung, small heart, deformed liver etc. The deformed foetus appeared to be the product of multifactorial inheritance disorders in sequential manner where survival of the foetus could not be possible beyond a period.