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Lesson: Chapter 20 — Heredity

20.6. Genetic disorders 7 of 7

When the chromosome number changes

The conditions so far all came from a single faulty gene. These come from something much larger: a body cell with one chromosome too many, or one too few.

How the number changes

During meiosis a homologous pair sometimes fails to separate, so one gamete ends up with both chromosomes of the pair and the other with neither. If such a gamete is fertilised, every cell of the resulting individual carries the wrong number — 47 instead of 46, or 45.

Down syndrome

47 chromosomes

Three copies of chromosome 21 instead of two. It affects physical development and learning, to a degree that varies a great deal from one person to another.

Turner syndrome

45 chromosomes — X only

A single X chromosome instead of a pair. The individual is female; growth is usually reduced and the ovaries commonly do not develop fully.

Klinefelter syndrome

47 chromosomes — XXY

An extra X alongside the usual X and Y. The individual is male, often taller than average, and the testes commonly do not develop fully.

Count the sex chromosomes in the last two

Turner syndrome is a missing sex chromosome and Klinefelter syndrome an extra one, so both trace back to the same event: the twenty-third pair failing to separate during meiosis. One gamete got both, the other got none, and each produced a different outcome.

These are not inherited from a parent who has them

A gene mutation can be passed down a family for generations. These conditions almost always arise afresh, from one faulty cell division in the formation of one gamete. They are genetic — they involve the chromosomes — without being inherited in the sense the first skill defined.

Wrong number, not wrong gene

These conditions come from a whole chromosome gained or lost when a pair fails to separate in meiosis: 47 chromosomes in Down and Klinefelter syndromes, 45 in Turner syndrome.