De novo direct duplication 2 (p12-->p21) with paternally inherited pericentric inversion 2p11.2 2q12.2.
We report a 4-year-old girl with a previously undescribed de novo duplication of 2p12->2p21 on the same homologue as a paternally inherited pericentric inversion of region 2p11.2-->2q12.2, resulting in dysmorphic features, cardiac abnormality, cleft palate, respiratory problems, severe growth retardation and developmental delay. This case raises an important question--did the paternal pericentric inversion influence the occurrence of the de novo duplication?
Magee
A C
AC
Regional Genetics Service, Belfast City Hospital, Northern Ireland.
Humphreys
M W
MW
McKee
S
S
Stewart
M
M
Nevin
N C
NC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male