A newborn girl has marked dorsiflexion oedema of the hands and feet, a low posterior hairline, and a systolic murmur best heard over the left interscapular area with weak femoral pulses. Which karyotype is most likely?

• A 47,XX,+18
• B 47,XXY
• C 47,XX,+21
• D 45,X ✓

Explanation

Lymphoedema of hands and feet at birth, low posterior hairline, and coarctation of the aorta (weak femoral pulses) are classic for Turner syndrome, monosomy X (45,X). Trisomy 18 gives rocker-bottom feet and overlapping fingers rather than lymphoedema with coarctation, and Klinefelter (47,XXY) presents after puberty with gynaecomastia and infertility, not neonatal lymphoedema.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.