Trisomy of the short arm of chromosome 4: the changing phenotype with age.
In this paper the authors describe three patients with trisomy of the short arm of chromosome 4 with special attention to the striking phenotypic changes with age. When they get older the round face with chubby cheeks, deeply-set eyes and broad and flat nasal root with a bulbous nose tip becomes triangular or even long. Postnatal growth retardation is pronounced with short neck and broad, short chest with hyperkyphosis. The moderate to severe mental retardation is associated with almost absence of speech development, severe behavioural problems and poor fine motor development with persisting hypertonia, stiff, unstable gait, joint contractures and seizures.
Kleczkowska
A
A
Centre for Human Genetics, University of Leuven, U.Z. Gasthuisberg, Belgium.
Fryns
J P
JP
van den Berghe
H
H
D000375:Aging / Q000502:physiology; D002648:Child; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics*; D014314:Trisomy