The phenotypic spectrum of trisomy 2: report of two new cases.
We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2.
Mihci
Ercan
E
Department of Medical Genetics, Mayo College of Medicine, Rochester, Minnesota 55905, USA.
Velagaleti
Gopalrao V N
GV
Ensenauer
Regina
R
Babovic-Vuksanovic
Dusica
D
D000328:Adult; D002675:Child, Preschool; D002877:Chromosomes, Human / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D014314:Trisomy / Q000473:pathology*