Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case
We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies). (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Anand PaiMohammad Shakir Source Type: research
Triple X Egyptian woman and a Down's syndrome offspring
We describe a new rare case of triple X woman and a Down's syndrome offspring. The patient is 26 years of age. She is a housewife, her height is 160 cm and weight is 68 kg and her physical features and mentality are normal. She has had one pregnancy at the age of 25 years resulted in a girl with Down's syndrome. The child had 47 chromosomes with trisomy 21 (47, XX, +21) [Figure 1]. The patient also has 47 chromosomes with a triple X karyotype (47, XX, +X) [Figure 2]. The patient's husband (27 years old) is physically and mentally normal. He has 46 chromosomes with a normal XY karyotype (4...
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Faeza Abdel Mogib El-Dahtory Source Type: research
A case of bilateral tibial hemimelia type VIIa
We report a case of newborn having bilateral tibial hemimelia type VIIa. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Selvakumar ChinnakkannanRashmi Ranjan DasK RughminiSufath Ahmed Source Type: research
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation
We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH) analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive. (Source: Indian Journ...
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Rashid SaleemGururaj SettyNahin Hussain Source Type: research
Short stature and an interesting association
We report here, a 7-year-old girl who presented with short stature, constipation and isosexual precocious puberty due to the long standing untreated severe hypothyroidism with this syndrome. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Latha Magatha SnehaKishore ThanasegarapandianVenkataraman ParamasivamJulius Xavier Scott Source Type: research
A novel deletion cluster at 13q14.2-q21.33 in an 80-year man with late onset leukemia: Clinical and molecular findings
Conclusions: The study highlights the role of ongoing de novo changes at susceptible sites, such as repeat rich regions, in the human genome. Also, it argues for the involvement of genes/deletions in the 13q(14.2-21.33) region in the development of CCL. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Kiran KumarSujit MaitiChristina A CastellaniRichard O'ReillyShiva M Singh Source Type: research
Tuberous sclerosis with rhabdomyoma
We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: V AjayVikram SinghalVardhelli VenkateshwarluSM Rajesh Source Type: research
Malignant infantile osteopetrosis
Kalenahalli Jagadish Kumar, Kasi Bandaru, Sathya Narayana Prashanth, Sangaraju MamathaIndian Journal of Human Genetics 2013 19(1):90-92Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts.It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome.The condition is commonly diagnosed in infancy with symptoms of significant hematologic a...
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Kalenahalli Jagadish KumarKasi BandaruSathya Narayana PrashanthSangaraju Mamatha Source Type: research
Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association
We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies,...
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Suresh R. S. MandrekarSangeeta AmoncarR. G. W Pinto Source Type: research
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature
Fatemeh Hadipour, Peymaneh Sarkheil, Mehrdad Noruzinia, Zahra Hadipour, Taghi Baghdadi, Yousef ShafeghatiIndian Journal of Human Genetics 2013 19(1):84-86Fanconi-Bickel syndrome is an extremely rare hereditary metabolic disease, characterized by hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis. Recurrent bone fractures are one of the hallmark findings. It is a single gene disorder; the responsible gene belongs to the facilitative glucose transporters 2 (GLUT2) family gene or (SLC2A2) mapped to the q26.1-26.3 locus on chromosome 3, and e...
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Fatemeh HadipourPeymaneh SarkheilMehrdad NoruziniaZahra HadipourTaghi BaghdadiYousef Shafeghati Source Type: research
Polymerase chain reaction optimization for amplification of Guanine-Cytosine rich templates using buccal cell DNA
Conclusions: It was possible to amplify the GC rich region of FMR 1 gene with reproducibility in the presence of betaine and DMSO as additives without the use of commercially available kits for DNA extraction and the expensive thermostable polymerases. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: C. H. W. M. R. Chandrasekara BhagyaWS Wijesundera SulochanaN Perera Hemamali Source Type: research
The determination of Q192R polymorphism of paraoxonase 1 by using non-toxic substrate p-nitrophenylacetate
Conclusion: The Q192R polymorphism of PON1 by using non-toxic substrate p-nitrophenylacetate showed trimodal distribution of QQ (homozygous), QR (heterozygous), and RR (homozygous) phenotype and it is comparable with reference method. This method can be used for PON1 phenotype in different pathological and complex disease conditions. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: MR MogarekarSeema S Chawhan Source Type: research
Distribution of CC-chemokine receptor-5-∆32 allele among the tribal and caste population of Vidarbha region of Maharashtra state
Conclusion: The marginal presence of the allele seen in the studied tribal population could be due to gene flow from the people of European descent. However, lack of the homozygous CCR5-Δ32 mutation and the low prevalence of heterozygous CCR5-Δ32 mutations suggest that the Indians are highly susceptible to HIV/AIDS, and this correlates with the highest number of HIV/AIDS infected individuals in India. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Arvind B ChavhanSantosh S PawarRajusing G JadhaoKishor G Patil Source Type: research
Association of interleukin-4 and interleukin-17F polymorphisms in periodontitis in Dravidian ethnicity
Conclusions: In Malayalam speaking Dravidian population IL-4 + 33C/T loci appears to be an important risk factor for periodontal disease with a leaning towards aggressive periodontitis. The association between IL-17F at 7383A/G and 7488A/G loci with either chronic or an aggressive periodontitis could not be ascertained. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Nidhi JainRosamma JosephShabeesh BalanR ArunMoinak Banerjee Source Type: research
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing
Conclusion: We can affirm that A1555G mutation is not prevalent, or it must be very rare in normal-hearing subjects in the State of Paranα, the south region of Brazil. The A1555G mutation frequency (1.3%) found in individual with nonsyndromic deafness is similar to those found in other populations, with nonsyndromic deafness. Consequently, it should be examined in deafness diagnosis. The investigation of the A1555G mutation can contribute towards the determination of the nonsyndromic deafness etiology, hence, contributing to the correct genetic counseling process. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Karina Bezerra SalomãoChristiane Maria AyoValter Augusto Della-Rosa Source Type: research
