Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.
Interstitial deletions of chromosome 4 have been described rarely and have had variable presentations. We describe the phenotypic characteristics associated with interstitial deletion of the p14-16 region of chromosome 4 in 7 patients with multiple minor anomalies in common, and with mental retardation. A review of published cases of interstitial deletions of the short arm of chromosome 4 is provided. These deletions present a distinct phenotype which is different from that of Wolf-Hirschhorn syndrome.
White
D M
DM
Department of Pediatrics, Doernbecher Children's Hospital, Portland 97201-3042, USA.
Pillers
D A
DA
Reiss
J A
JA
Brown
M G
MG
Magenis
R E
RE
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype