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Volume 11 | Issue 4 | October to December 2018

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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
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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
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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
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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
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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
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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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17th ICMR Course on Medical Genetics & Genetic Counseling August 20 - September 01, 2018
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1. 4th International Birth Defects Conference (ICBD 2018) & 5th Annual Conference of the Society for Indian Academy of Medical Genetics (SIAMGCON 2018)
2. 5th National Conference of the Indian Society of Inborn Errors of Metabolism (ISIEM)
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