A newborn girl has low-set malformed ears, micrognathia, clenched hands with overlapping fingers, and rocker-bottom feet. Echo shows a large VSD with an overriding aorta. Which karyotype is most likely?

• A Trisomy 13
• B 45,X
• C Trisomy 21
• D Trisomy 18 ✓

Explanation

Clenched fists with overlapping fingers and rocker-bottom feet are classic for Edwards syndrome (trisomy 18), the second most common autosomal trisomy at birth. Congenital heart disease is present in most cases. Rocker-bottom feet also occur in Patau syndrome (trisomy 13), but that condition is characterised by midline defects such as holoprosencephaly, cleft lip or palate, and polydactyly rather than overlapping fingers.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.