Partial trisomy 2p.
A 4-year-and-10-month-old girl was referred to the Child Development Center, Rhode Island Hospital, Providence, Rhode Island, USA, for evaluation because of mental retardation. She was found to have short stature, congenital heart disease and dysmorphic facial features. A chromosome analysis revealed an unbalanced translocation with trisomy of the distal part of the short arm of chromosome 2 (2p21----2pter). A balanced reciprocal translocation was identified in the maternal karyotype 46,X,t(X;2)(q28;p21). The phenotype of partial trisomy 2p is discussed.
Pueschel
S M
SM
Department of Pediatrics, Rhode Island Hospital, Brown University Program in Medicine, Providence.
Scola
P S
PS
Mendoza
T
T
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy