Down’s syndrome is caused due to

2016

Down’s syndrome is caused due to

  1. A.

    Monosomy of 21st chromosome

  2. B.

    Trisomy of 21st chromosome

  3. C.

    An extra chromosome in male

  4. D.

    An extra chromosome in female

Attempted by 2 students.

Show answer & explanation

Correct answer: B

Concept: Down syndrome belongs to a class of disorders called aneuploidies -- conditions where a person has an abnormal number of copies of a particular chromosome instead of the usual two. A missing copy is called a monosomy; an extra copy is called a trisomy. Aneuploidy most commonly arises from nondisjunction -- the failure of a chromosome pair (or sister chromatids) to separate properly during meiosis in a parent's germ cells -- so the resulting egg or sperm carries one extra or one fewer chromosome than normal.

Application: In Down syndrome, this nondisjunction event specifically affects chromosome 21, so the individual ends up with three copies of chromosome 21 instead of two -- a trisomy of the 21st chromosome (karyotype 47,+21). Because the nondisjunction event can happen during either egg or sperm formation, this chromosomal alteration is independent of the affected individual's own sex -- it occurs in males (47,XY,+21) and females (47,XX,+21) at essentially the same rate.

Cross-check -- why the other options don't fit:

  • Monosomy of the 21st chromosome would mean only ONE copy of chromosome 21 is present, not an extra one; a monosomy of an autosome this large is not compatible with survival to birth, so it describes a different, non-viable condition -- not Down syndrome.

  • An extra chromosome in male: framing the cause around the affected person's sex is incorrect -- this option does not even identify which chromosome is duplicated, and the nondisjunction that produces Down syndrome is not restricted to males.

  • An extra chromosome in female: for the same reason, tying the cause to female sex specifically is incorrect -- the same chromosomal alteration occurs in males too.

Result: Down syndrome is therefore caused by trisomy of the 21st chromosome -- three copies instead of the usual two.

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