Understanding Chromosomal Abnormalities: A Guide to Genetic Disorders

Jan 05, 2026

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This informative guide delves into various chromosomal abnormalities, including Down Syndrome, Jacob's Syndrome, Patau's Syndrome, Turner’s Syndrome, Klinefelter’s Syndrome, Cri du Chat, Edward’s Syndrome, Treacher Collins Syndrome, and associated conditions like cleft palate. Each syndrome is characterized by specific genetic mutations, such as Treacher Collins syndrome caused by a gene mutation on Chromosome 5. This condition is autosomal dominant, requiring only one parent to pass on the abnormal gene. Gain insights into these genetic conditions and their implications for affected individuals.

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Understanding Chromosomal Abnormalities: A Guide to Genetic Disorders

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Chromosomal Abnormalities
Down Syndrome
Jacob’s Syndrome
WARNING:This image may be disturbing to some individuals.
Pataos Syndrome
Turner’s Syndrome
Klinefelter’s Syndrome
Cri Du Chat
Edward’s Syndrome

Treacher Collins syndromeand a cleft palate. • Auggie’s condition is caused by: • a GENE MUTATION on Chromosome 5. • The mutated gene produces abnormalities in the making of a protein called treacle. • Treacher Collins syndrome is an autosomal dominant condition, meaning that only one parent needs to have an abnormal gene for the child to inherit the disease.