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Indian Journal of Human Genetics

Pankaj Kumar Mohanty, Seema Kapoor
No abstract text is available yet for this article.
April 2014: Indian Journal of Human Genetics
Daipayan Chatterjee
Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity...
April 2014: Indian Journal of Human Genetics
Eiman Bagherizadeh, Yousef Shafaghati, Fatemeh Hadipour, Farkhondeh Behjati
Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations...
April 2014: Indian Journal of Human Genetics
Abbas Sahami, Nourkhoda Sadeghifard, Alireza Monsef, Hadi Peyman
So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we presented first report of c. 1499G>C mutation in a 6-month-old girl with cystic fibrosis (CF) diagnosis. A 6-month-old girl with weakness and meconium Ileus referred to the pediatric clinic in Ilam, in the west of Iran. Patient's skin was dark and suffered from bronchiectasis. The sweat test was performed, and the concentration of chloride and sodium in patient's sweat was 130-135 mmol/L and 125-128 mmol/L, respectively...
April 2014: Indian Journal of Human Genetics
Suresh R S Mandrekar, Sangeeta Amoncar, Siddhartha Banaulikar, Vishal Sawant, R G W Pinto
OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC)...
April 2014: Indian Journal of Human Genetics
C Ramachandra, Vasu Reddy Challa, Rachan Shetty
Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer...
April 2014: Indian Journal of Human Genetics
Suwansh Sukhadeorao Meshram, Sheetal Nikose, Shraddha Jain, Amar Taksande
We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.
April 2014: Indian Journal of Human Genetics
Parmarth G Chandane, Ira Shah
Antenatal use of anticonvulsant valproic acid can result in a well-recognized cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. In this report, we describe a case with typical features of fetal valproate syndrome (FVS). A 26-year-old female with epilepsy controlled on sodium valproate 800 mg/day since 3 years, gave birth to a male child with characteristic features of FVS. She also had 3 spontaneous first-trimester abortions during those 3 years. Sodium valproate, a widely used anticonvulsant and mood regulator, is a well-recognized teratogen that can result in facial dysmorphism, craniosynostosis, neural tube defects, and neurodevelopmental retardation...
April 2014: Indian Journal of Human Genetics
Tarang Goyal, Anupam Varshney, S K Bakshi
We present a case of ectopia cilia in a 28-year-old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient's maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient's mother. Ectopia cilia is a rare condition seen in humans. Only 12 cases of ectopic cilia in humans have been reported so far in the world. The present case of ectopia cilia is the second case report in the world with pedigree analysis.
April 2014: Indian Journal of Human Genetics
Lakshmi Mahadevan, Ancy Yesudas, P K Sajesh, S Revu, Prasanna Kumar, Devi Santhosh, Sam Santhosh, J M Sashikumar, V K Gopalakrishnan, Joji Boben, Changanamkandath Rajesh
BACKGROUND AND AIM: This study reports the prevalence of five clinically significant variants associated with increased risk of cardiovascular disorders, and variable responses of individuals to commonly prescribed cardiovascular drugs in a South Indian population from the state of Kerala. MATERIALS AND METHODS: Genomic DNA isolated from 100 out-patient samples from Kerala were sequenced to examine the frequency of clinically relevant polymorphisms in the genes MYBPC3 (cardiomyopathy), SLCO1B1 (statin-induced myopathy), CYP2C9, VKORC1 (response to warfarin) and CYP2C19 (response to clopidogrel)...
April 2014: Indian Journal of Human Genetics
Avinash M Veerappa, Sangeetha Vishweswaraiah, Kusuma Lingaiah, N Megha Murthy, Raviraj V Suresh, Keshava Belur, Nallur B Ramachandra, Tejaswini, Niveditha B Patel, P K Supriya Gowda
BACKGROUND: Many studies have been conducted to identify either insertions-deletions (inDels) or copy number variations (CNVs) in humans, but few studies have been conducted to identify both of these forms coexisting in the same region. AIMS AND OBJECTIVES: To map the functionally significant sites within human genes that are likely to influence human traits and diseases. MATERIALS AND METHODS: In this report, we describe an inDel map in the 1051 Tibetan CNV regions obtained through CNV genotyping using Affymetrix Genome-wide single nucleotide polymorphism 6...
April 2014: Indian Journal of Human Genetics
Suchitra Swaminathan, Swati Garg, Manisha Madkaikar, Maya Gupta, Farah Jijina, Kanjaksha Ghosh
BACKGROUND: Acute promyelocytic leukemia (APL) with t (15;17) is a distinct category of acute myeloid leukemia (AML) and is reported to show better response to anthracyclin based chemotherapy. A favorable overall prognosis over other subtypes of AML has been reported for APL patients but still about 15% patients relapse. METHODS: This study evaluated the presence of Famus like tyrosine kinase-3 (FLT3) and nucleophosmin-1 (NPM1) gene mutations in a cohort of 40 APL patients...
April 2014: Indian Journal of Human Genetics
Rajeev Kumar Pandey, Abid Ali, Amit Singh, Sukanya Gayan, Minu Bajpai
BACKGROUND: 677C to T allele in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of various syndromes and nonsyndromic diseases but till date no direct studies have been reported with craniosynostosis. OBJECTIVES: The aim was to study the family-based association of MTHFR polymorphism in different categories of craniosynostosis patients. MATERIALS AND METHODS: This was a cross-sectional study in which 30 patients classified as Apert syndrome, Pfeiffr syndrome and nonsyndromic craniosynostosis patients with their family were recruited...
April 2014: Indian Journal of Human Genetics
Viroj Wiwanitkit
BACKGROUND: Down's syndrome is an important congenital chromosomal disorder that can be seen around the world. The antenatal screening for this disorder is an important processing in present obstetrics. OBJECTIVE: Due to the concept of first do no harm, the use of noninvasive test is recommended. The triple marker screening test has been introduced for a few years and acceptable for its efficacy. RESULT: However, an important concern is on its cost-effectiveness...
April 2014: Indian Journal of Human Genetics
Ramesh R Chaudhari, M S Dahiya
MATERIALS AND METHODS: The genetic diversity and forensic parameters based on 15 autosomal short tandem repeats (STR) loci; D8S1179,D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317,D16S539, D2S1338, D19S433, vWA, TPOX, D18S51,D5S818, and FGA in AmpFLSTR® Identifiler™ kit from Applied Biosystems, Foster City, CA, USA were evaluated in saliva samples of 297 unrelated individuals from the Bhil Tribe population of Gujarat state, India to study genetic diversities and relatedness of this population with other national and international populations...
April 2014: Indian Journal of Human Genetics
Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil Kumar Yadav
BACKGROUND: Down syndrome (DS) is the most common cause of mental retardation of genetic etiology with the prevalence rate of 1/700 to 1/1000 live births worldwide. Several polymorphisms in folate/homocysteine metabolism pathways genes have been reported as a risk factor in women for bearing DS child, but very few studies investigated these polymorphisms in DS cases whether there are a risk factor for being DS or not. OBJECTIVE: We have investigated the association of methylenetetrahydrofolate reductase (MTHFR) with the occurrence of DS in Indian population...
April 2014: Indian Journal of Human Genetics
B M Pratheek, Tapas K Nayak, Subhransu S Sahoo, Prafulla K Mohanty, Soma Chattopadhyay, Ntiya G Chakraborty, Subhasis Chattopadhyay
The evolutionary conserved, less-polymorphic, nonclassical major histocompatibility complex (MHC) class I molecules: Qa-1 and its human homologue human leukocyte antigen-E (HLA-E) along with HLA-F, G and H cross-talk with the T-cell receptors and also interact with natural killer T-cells and other lymphocytes. Moreover, these nonclassical MHC molecules are known to interact with CD94/NKG2 heterodimeric receptors to induce immune responses and immune regulations. This dual role of Qa-1/HLA-E in terms of innate and adaptive immunity makes them more interesting...
April 2014: Indian Journal of Human Genetics
Shreekantiah Umesh, Shamshul Haque Nizamie
Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications.
April 2014: Indian Journal of Human Genetics
Kanjaksha Ghosh, Roshan Colah, Mamta Manglani, Ved Prakash Choudhry, Ishwar Verma, Nishi Madan, Renu Saxena, Dipty Jain, Neelam Marwaha, Reena Das, Dipika Mohanty, Rajendra Choudhary, Sarita Agarwal, Malay Ghosh, Cecil Ross
The β-thalassemias and sickle cell disorders are a major health burden in India. Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India. In view of a National Thalassemia Control Program to be launched soon, a need was felt for guidelines on whom to screen, cost-effective technologies that are to be used as well as for establishing prenatal diagnosis programs in regional centers...
April 2014: Indian Journal of Human Genetics
Babu Rao Vundinti
No abstract text is available yet for this article.
April 2014: Indian Journal of Human Genetics
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