Ultimate NEET SS Pediatrics Genetic Disorders Study Materials

Chromosomal DisordersDisorders of numbers: Aneuploidy which can be of 2 types Trisomy, Monosomy.Disorders of structure.Translocations—Shifting of...

What are Chromatin Regulatory Disorders?Compose genetic conditions having pathogenic variations in proteins regulating gene expression in nuclear...

Pulmonary SurfactantA mixture of phospholipids and proteins Produced by type-2 alveolar pneumocytes Known as AEC2 cells. Alveolar epithelial cell...

This syndrome, which affects both boys and females, has a normal karyotype but phenotypically resembles Turner syndrome.Epidemiology Of Noonan Sy...

Mitochondrial InheritanceAll children born to a mother are affected suggesting mitochondrial inheritance.Fragile X-syndromeTrinucleotide repeat d...

What Are Microdeletion Syndromes?Microdeletion syndromes arise due to deletions smaller than  5 Mbps from a gene. These diseases are not identifi...

UPD(Uniparental Disomy)It occurs when both chromosomes of a pair or area from one chromosome in any individual have been inherited from a single