Advanced search    

Search: authors:"Frenny Sheth"

28 papers found.
Use AND, OR, NOT, +word, -word, "long phrase", (parentheses) to fine-tune your search.

A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature

Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/or monosomy 6 due to loss of r(6). An 11-year-old male was referred with developmental delay, intellectual...

Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15

Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a variability of rearrangement of genetic...

GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review

Background GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. Case presentation Present case is a one year old male born to 3rd degree consanguineous Indian...

GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review

GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He...

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation

Background Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. Case characteristics A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique. Results Chromosomal analysis for the couple was performed. A...

Pure interstitial dup(6)(q22.31q22.31) – a case report

‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627–971 kb dup(6)(q22.31q22.31...

Prenatal screening of cytogenetic anomalies – a Western Indian experience

Background Children born with congenital anomalies present a very high rate of perinatal death and neonatal mortality. Cytogenetic analysis is a convincing investigation along with clinical suspicion and biochemical screening tests. The current study was designed to characterize the prevalence and types of chromosomal abnormalities in high risk prenatal samples using different...

Identification of novel mutations in HEXA gene in children affected with Tay-Sachs disease from India

Mistri et al. Molecular Cytogenetics Identification of Novel Mutations in HEXA Gene in Children Affected with Tay-Sachs Disease from India Mehul Mistri 2 Chaitanya Datar 1 Frenny Sheth 2 Sarita

Prenatal Diagnosis of Lysosomal Storage Disorders by Enzymes Study Using Chorionic Villus and Amniotic Fluid

The reported prevalence of lysosomal storage disorder (LSD) is 1:5,000–7,000 live births and with the limited availability of therapeutic option; prenatal diagnosis (PD) remains the only preventable cure for storage disorders. One hundred forty pregnancies having confirmed diagnosis of LSDs in index case were selected for enzymes study during PD from uncultured and/or cultured...

Association of Vitamin D3 levels with glycemic control in Type 2 diabetes subjects from Gujarati population-India

Majumder et al. Molecular Cytogenetics Association of Vitamin D levels with Glycemic 3 Control in Type 2 Diabetes Subjects from Gujarati population-India Avisek Majumder 0 Bhavik Doshi 0 Frenny ... Sheth 0 Manan Patel 0 Navneet Shah Thakor Premal Rama Vaidya Jayesh Sheth 0 0 FRIGE's Institute of Human Genetics , FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad-380015 , India - From