Terminal deletion of long arm of chromosome 4: patient report and literature review.
We report on a girl with a terminal deletion (46,XX,del(4)(q33-->ter). She presented with developmental delay and slight facial dysmorphism. The clinical features are compared with the patients in the literature and a review of the psychologic data is given.
Evers
L J
LJ
Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
Schrander-Stumpel
C T
CT
Engelen
J J
JJ
Mulder
H
H
Borghgraef
M
M
Fryns
J P
JP
D054880:Aspartylglucosaminuria; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics