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TC(561).(33).Genetic Case No 03.Common Chromosomal Disorders

List of Common Chromosomal Disorders

Chromosome 1 – Variegate porphyria

Chromosome 3 – von Hippel Lindau (VHL)

Chromosome 4 – Polycystic Kidney Disease (PKD2), Huntington’s disease, Achondroplasia

Chromosome 6 – Hereditary haemochromatosis

Chromosome 7 – Cystic Fibrosis

Chromosome 9 – Fredrich’s ataxia

Chromosome 11 – Sickle Cell Disease, Beta-Thalassemia

Chromosome 12 – Phenylketonuria, von Willebrand’s disease

Chromosome 13 – Patau Syndrome, Wilson Disease, Retinoblastoma

Chromosome 15 – Marfan’s Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Tay-Sachs Disease

Chromosome 16 – Polycystic Kidney Disease (PKD1), Alpha-Thalassemia

Chromosome 17 – Celiac Disease, Charcot-Marie-Tooth Disease, Neurofibromatosis (NF1)

Chromosome 18 – Edward Syndrome

Chromosome 19 – Myotonic Dystrophy

Chromosome 21 – Down Syndrome

Chromosome 22 – DiGeorge Syndrome, Neurofibromatosis (NF2)

Raiyyan Tahsan Date:-29-06-2025 Sunday Time:-10-06-33 Pm

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