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Multiple Choice

Turner syndrome is associated with which karyotype and clinical feature?

Turner syndrome occurs when one sex chromosome is missing in most or all cells, leaving a monosomy X pattern (45,X). This chromosomal change underpins characteristic physical and reproductive features. Clinically, individuals are typically short in stature and have infertility due to ovarian failure (streak ovaries and reduced estrogen production). Additional common signs include a webbed neck, lymphedema in infancy, and congenital heart defects such as coarctation of the aorta or a bicuspid aortic valve. The key pairing here is monosomy X with these typical Turner features, reflecting how the single X chromosome drives the clinical presentation. Other listed options involve different chromosomal patterns or disorders and do not match Turner syndrome.

Turner syndrome occurs when one sex chromosome is missing in most or all cells, leaving a monosomy X pattern (45,X). This chromosomal change underpins characteristic physical and reproductive features. Clinically, individuals are typically short in stature and have infertility due to ovarian failure (streak ovaries and reduced estrogen production). Additional common signs include a webbed neck, lymphedema in infancy, and congenital heart defects such as coarctation of the aorta or a bicuspid aortic valve. The key pairing here is monosomy X with these typical Turner features, reflecting how the single X chromosome drives the clinical presentation. Other listed options involve different chromosomal patterns or disorders and do not match Turner syndrome.