A case of oligoasthenoteratozoospermia with AZFc deletion and persistent oxidative stress
We report here a rare case of an infertile man carrying AZFc deletion, whose semen picture is oligoasthenoteratozoospermia complexed with seminal oxidative stress. Anti-oxidant therapy could make no change in either oxidative stress biomarker levels of semen, seminal parameters or serum hormone levels. Therefore, oligoasthenoteratozoospermia in the present case correlates with AZFc deletion, and high content of abnormal sperm eventually might be responsible for persistently elevated reactive oxygen species levels. Understanding the function of genes in AZFc region could help decipher the exact cause of the phenotype in suc...
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Rajender SinghAhmad Mohammad KaleemSankhwar Satya NarayanaAbbas Ali Mahdi Source Type: research
Proteus syndrome: A rare case report
We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Keerthi TalariPraveen Kumar Arinaganhalli SubbannaDeepak AmalnathSubrahmanyam Dharanitragada Krishna Suri Source Type: research
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
Leon Mutesa, Mauricette Jamar, Anne Cecile Hellin, Genevieve Pierquin, Vincent BoursIndian Journal of Human Genetics 2012 18(3):352-355While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our...
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Leon MutesaMauricette JamarAnne Cecile HellinGenevieve PierquinVincent Bours Source Type: research
An uncommon case of an adult with del(5)(q) in acute lymphoblastic leukemia
We present here, a case report of diagnosis of an adult 75 year old patient of ALL with a cytogenetic abnormality of del(5)(q32). His clinical features, morphology and immunophenotyping findings were suggestive of T-ALL. Relevant literature has been reviewed and discussed. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: E VenkataswamyAshwini R NargundShilpa PrabhudesaiGeeta V PatilJ Chandra RaoVidya H VeldoreShekar PatilAmit VermaRashmita SahooBS AjaikumarPrasannakumari Source Type: research
Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Katta Mohan GirishaAroor ShrikiranAbdul Mueed BidcholOsamu SakamotoPuthiya Mundyat GopinathKapaettu Satyamoorthy Source Type: research
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
Nanda Chhavi, Sankar Prashanth, Chandrasekaran Venkatesh, Kadirvel KarthikeyanIndian Journal of Human Genetics 2012 18(3):344-345A male neonate was born with rhizomelic shortening of limbs. Skeletal radiograph showed punctate calcification of epiphysis of humerus, femur, and tibia. The diagnosis and a brief review of literature pertaining to the condition with emphasis on antenatal diagnosis and counseling are being reported. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Nanda ChhaviSankar PrashanthChandrasekaran VenkateshKadirvel Karthikeyan Source Type: research
Analysis of loss of heterozygsity effect on thyroid tumor with oxyphilia cell locus in familial non medullary thyroid carcinoma in Iranian families
Discussion: Our findings showed an average of 13.9% LOH in FNMTC cases. Among the five major microsatellites, D19S413 was the most informative for LOH analysis of FNMTC. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Hasti Atashi ShiraziMehdi HedayatiMaryam Sadat DaneshpourAbdollah ShafieeFereidoun Azizi Source Type: research
Genetic significance of muscle segment homeo box1 gene in South Indian population for cleft lip and palate
Conclusion: This study supports MSX1 gene leading to cleft lip and palate in the samples studied. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: S Prasad VenkannaVenkatesh Shivani Source Type: research
Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers
Conclusions: Pre-prescription genotyping for coumarin drugs, if introduced in Indians with inherited thrombophilia (in whom oral anti-coagulant therapy may be necessary), is likely to identify 9.7% (hypersensitive) subjects in whom the optimum anti-coagulation may be achieved with reduced dosages, 44.3% (normal sensitivity) who may require higher dose and also 55.6% (hyper and moderate sensitivity) subjects who are likely to experience bleeding episodes. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Risha NaharRenu SaxenaRoumi DebIshwar C Verma Source Type: research
The low frequency of Y chromosome microdeletions in subfertile males in a Sinhalese population of Sri Lanka
Conclusions: These results suggest a much lower Y chromosome microdeletion frequency than previously thought, even among a strictly selected group of sub-fertile males in Sri Lanka. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Tithila Kalum WettasingheRohan W JayasekaraVajira H. W. Dissanayake Source Type: research
Conditional deletion of the human ortholog gene Dicer1 in Pax2-Cre expression domain impairs orofacial development
Conclusions: Pax2-Cre-mediated Dicer1 deletion disrupts lateral palatal outgrowth and bone mineralization during palatal shelf development, therefore providing a mammalian model for investigating the role of miRNA-mediated signaling pathways during palatogenesis. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Laura C BarrittJoseph M MillerLaura R ScheetzKelsey GardnerMarsha L PierceGarrett A SoukupSonia M Rocha-Sanchez Source Type: research
The use of hormones indicators in human saliva in diagnosing parodontitis in pregnant women
Conclusions: It was established that periodontitis against pregnancy is characterized by higher levels of salivary DHEA sulfate and lower estriol, compared with a control group of pregnant women. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: SI DolomatovW ZukowID AtmazhovR MuszkietaA Skaliy Source Type: research
Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India
Conclusion: We found the clinical (symptoms and MRI) and genetic (Pedigree and PCR) results to be correlated. The PCR result revealed the disease to be of SCA 1 type being inherited in the family. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Shashikant SharmaTekcham Dinesh SinghSatish S PoojaryManoj Singh RohillaAjaypal SinghKishore B LowalekarPramod Kumar Tiwari Source Type: research
Hemoglobinopathies in South Gujarat population and incidence of anemia in them
Conclusion : Study suggests that BTT is the most prevalent hemoglobinopathy in South Gujarat. β-thalassemia and Sickle cell anemia are highly prevalent in Mahyavanshi, Chaudhary, Gamit, Vasava and Rohit. Prajapati, Lohana, Leva Patel, and Ghanchi have β- thalassemia risk. SCT is more frequently detected in Dhodia Patel and Kukanas. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Ankur G PatelAvani P ShahSmita M SorathiyaSnehalata C Gupte Source Type: research
Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran
Conclusion: The frequency of R261X, the most common mutation in our study, in Iranian population is <5%. Furthermore, there is no report of detection of R176X and R243Q in Isfahan and Azeri Turkish populations. These findings confirm the common Mediterranean mutations in this local population, although with more or lower frequencies than those reported in other related studies in Iran. Therefore, it may be necessary to study the PAH gene mutations in other provinces of Iran separately. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Keyvan MoradiReza AlibakhshiKeyghobad GhadiriSaeid Reza KhatamiHamid Galehdari Source Type: research
