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Chromosomal abnormalities are genetic disorders caused by numerical or structural changes in chromosomes. Among the most important conditions for exam preparation are Down syndrome, Turner syndrome, and Klinefelter syndrome.
Down syndrome (Trisomy 21) is the most common chromosomal disorder, caused by an extra copy of chromosome 21. It presents with intellectual disability, flat facial features, epicanthic folds, single palmar crease, and increased risk of congenital heart defects such as AV septal defects. Advanced maternal age is a major risk factor.
Turner syndrome (45,XO) affects females and is characterized by short stature, webbed neck, shield chest, and streak ovaries leading to infertility. Patients often have coarctation of the aorta and require hormone replacement therapy for normal development.
Klinefelter syndrome (47,XXY) affects males and presents with tall stature, gynecomastia, small testes, infertility, and reduced testosterone levels. It is one of the most common causes of male hypogonadism.
This conceptual image provides a comparative overview of these syndromes, helping students quickly differentiate clinical features, karyotypes, and associated complications—making it an excellent revision tool for exams.
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