Affiliations: National Human Genome Research Institute, National
Institutes of Health, Bethesda, MD 20892, USA | Division of Pediatrics, Children's National Medical
Center, Washington, DC 20010, USA | Division of Genetics and Metabolism, Children's
National Medical Center, Washington, DC 20010, USA | Division of Neonatology, Children's National Medical
Center, Washington, DC 20010, USA
Note: [] Corresponding author: Benjamin D. Solomon, MD, National Human
Genome Research Institute, National Institutes of Health, Building 10, Room
3C-710, Bethesda, MD 20892, USA. Tel.: +1 301 435 6694; Fax: +1 301 435 3495;
E-mail: [email protected]
Abstract: Prematurity is frequently seen in the neonatal intensive care unit,
and trisomy 21 is an often diagnosed neonatal disorder. We report a unique case
of extremely premature twins, one of whom was ultimately diagnosed with trisomy
21. We were able to examine the neonatal courses and outcomes of these twins,
which were similar despite the presence of trisomy 21 in one twin. This is the
first report comparing the neonatal course of an infant with trisomy 21 to an
unaffected twin in patients born so prematurely, and demonstrates the
difficulty of making the diagnosis of trisomy 21 based solely on physical
examination in premature infants.
Keywords: Trisomy 21, Down syndrome, prematurity, extremely low birth weight
