Full Monosomy 21: Echocardiographic Findings in the Third Molecularly Confirmed Case
Pediatric Cardiology, 05/16/2012
Fisher D et al. – Monosomy 21 is a rare chromosomal abnormality, with only nine cases reported in the literature. Affected infants display multiple dysmorphic features as well as skeletal, ocular, pulmonary, cardiac, renal, and genitourinary abnormalities. All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term.