Ultimate NEET SS Pediatrics Genetic Disorders Study Materials

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