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Ch. 7 - Sex Determination and Sex Chromosomes
Klug - Concepts of Genetics 12th Edition
Klug12th EditionConcepts of GeneticsISBN: 9780135564776Non è quello che usi tu?Cambia libro di testo
Capitolo 7, Problema 9

Describe how nondisjunction in human female gametes can give rise to Klinefelter and Turner syndrome offspring following fertilization by a normal male gamete.

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Understand that nondisjunction is the failure of chromosome pairs to separate properly during meiosis, resulting in gametes with abnormal numbers of chromosomes.
Recognize that in human females, nondisjunction can occur during meiosis I or II, leading to eggs that either have two X chromosomes (XX) or no sex chromosome (O).
Consider fertilization by a normal male gamete, which always contributes one X or one Y chromosome.
For Klinefelter syndrome (typically XXY), an egg with two X chromosomes (due to nondisjunction) is fertilized by a sperm carrying a Y chromosome, resulting in an XXY zygote.
For Turner syndrome (typically XO), an egg with no sex chromosome (due to nondisjunction) is fertilized by a sperm carrying an X chromosome, resulting in an XO zygote.

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Nondisjunction

Nondisjunction is the failure of chromosome pairs to separate properly during meiosis, resulting in gametes with abnormal numbers of chromosomes. In females, this can occur during meiosis I or II, producing eggs with either an extra chromosome or missing one, which affects the chromosome number in the resulting zygote after fertilization.
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Klinefelter Syndrome

Klinefelter syndrome occurs when a male inherits an extra X chromosome, resulting in a 47,XXY karyotype. This can happen if a female gamete with two X chromosomes (due to nondisjunction) is fertilized by a normal Y-bearing sperm, leading to the presence of an additional sex chromosome in the offspring.
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Human Sex Chromosomes

Turner Syndrome

Turner syndrome arises when a female has only one X chromosome (45,X) due to the absence of a sex chromosome. This can result if a female gamete lacking an X chromosome (from nondisjunction) is fertilized by a normal X-bearing sperm, producing offspring with monosomy X and characteristic developmental features.
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Percorso guidato
10:35
Human Sex Chromosomes
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