A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.
We report an infant with del(2)(q31q33). His phenotype is compared with those of the 7 children reported previously with the apparently identical deletion. Nine cases of deletions involving other segments of chromosome 2q are reviewed. Common manifestations of the 2 groups include small size at birth, growth and developmental retardation, cardiovascular malformation, microcephaly, and cleft palate.
Ramer
J C
JC
Pennsylvania State University College of Medicine, Department of Pediatrics, Milton S. Hershey Medical Center, Hershey 17033.
Ladda
R L
RL
Frankel
C A
CA
Beckford
A
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype