Genetic Clinics
GeNeDit
October to December 2018| Vol 11 | Issue 4 | Page No 2
The Genome Revisited
The field of Medical Genetics has been growing by leaps and bounds. We have come a really long way since the initial description of heritable traits by Gregor Mendel in the 1860s. The elucidation of the human genome sequence, which would have seemed like science fiction until even half a century back
Dr. Prajnya Ranganath
Clinical Vignette
October to December 2018| Vol 11 | Issue 4 | Page No 3-6
Megaconial Muscular Dystrophy with a Novel Mutation in the CHKB Gene
Congenital muscular dystrophy is a genetically heterogenous disorder. We report two sisters with megaconial myopathy who presented with developmental delay, congenital muscular dystrophy and acanthosis with ichthyosis. About 36 cases have been described in world literature. Ours is the first case report from India. Whole exome sequencing identified a novel homozygous nonsense mutation in the CHKB gene
Dr Seema Thakur
Clinical Vignette
October to December 2018| Vol 11 | Issue 4 | Page No 3-6
Megaconial Muscular Dystrophy with a Novel Mutation in the CHKB Gene
Congenital muscular dystrophy is a genetically heterogenous disorder. We report two sisters with megaconial myopathy who presented with developmental delay, congenital muscular dystrophy and acanthosis with ichthyosis. About 36 cases have been described in world literature. Ours is the first case report from India. Whole exome sequencing identified a novel homozygous nonsense mutation in the CHKB gene
Dr Seema Thakur
Clinical Vignette
October to December 2018| Vol 11 | Issue 4 | Page No 7-10
Fatty Acid Hydroxylase- Associated Neurodegeneration - A Rare Case of Neurodegeneration with Brain Iron Accumulation (NBIA)
Fatty acid hydroxylase associated neurodegeneration is a rare disorder which belongs to the group of disorders of neurodegeneration with brain iron accumulation (NBIA). We present a case of a 9-year-old girl who presented with gradually progressive stiffness of limbs with speech delay and neuroimaging findings of T2 hypointensities in the globus pallidus and substantia nigra suggestive of brain iron accumulation.
Dr Sunita Bijarnia-Mahay
GeNeViSTA
October to December 2018| Vol 11 | Issue 4 | Page No 11-16
Genetics of Parkinson Disease
Parkinson disease is a common neurodegenerative disorder, characterized by bradykinesia, tremor, rigidity and difficulty in initiating movement. It is caused due to loss of dopaminergic neurons in the substantia nigra in the midbrain. Sporadic forms account for 90% of cases and manifest by 60 years of age. Both environmental and genetic factors have been implicated in sporadic forms. Various genes with autosomal dominant, recessive and X linked inheritance have been identified for monogenic forms of Parkinsonism.
Dr Dhanya Lakshmi N
GeNeXprESS
October to December 2018| Vol 11 | Issue 4 | Page No 17-18
Whole Genome Sequencing: The Way Forward for Molecular Cytogenetics
Prenatally detected de novo balanced chromosomal rearrangements have been reported to be associated with a 6-9% risk of adverse outcome, but the postnatal long-term morbidity in these antenatally detected cases has not been adequately studied.
Dr Prajnya Ranganath
PhotoQuiz
October to December 2018| Vol 11 | Issue 4 | Page No 19
This seven months-old girl child, born to non- consanguineous parents, was evaluated for severe global developmental delay. She was operated for cleft lip and cleft palate. Her karyotype was normal.
Shubha R Phadke
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