Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism.
A 17-month-old boy is reported with 46,XY,del(4) (p15.2p15.32). He had mild psychomotor retardation and multiple minor anomalies, without growth retardation or microcephaly, which differs from the classical 4p--syndrome (Wolf-Hirschhorn syndrome). The activity of dihydropteridine reductase, a genetic marker for chromosome 4p15.3, was half that in a normal control.
Ishikawa
T
T
Department of Pediatrics, Nagoya City University Medical School, Japan.
Sumi
S
S
Fujimoto
S
S
Shima
Y
Y
Wada
Y
Y
D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D004093:Dihydropteridine Reductase / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010661:Phenylketonurias; D011596:Psychomotor Disorders / Q000235:genetics*
D005819:Genetic Markers; D004093:Dihydropteridine Reductase