A newborn girl is noted to have bilateral lymphoedema of the hands and feet, a webbed neck, and widely spaced nipples. Echocardiography shows bicuspid aortic valve with coarctation of the aorta. Which karyotype is most likely?

• A 47,XX,+13
• B 47,XXY
• C 47,XX,+21
• D 45,X ✓

Explanation

Monosomy X (Turner syndrome) presents in the female newborn with lymphoedema of the dorsum of hands and feet, redundant neck skin or webbing, low posterior hairline, shield chest with widely spaced nipples, and congenital left-sided cardiac lesions, coarctation of the aorta being classic. Karyotype is 45,X in about half of cases, with mosaicism in the rest. 47,XXY gives a phenotypically male infant, and trisomies 21 and 13 do not produce this combination of lymphoedema with coarctation.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.