Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.
We report a mentally retarded girl with minimal dysmorphic signs. Cytogenetic examination showed an interstitial deletion of chromosome 8: 46, XX, del(8)(p21.2p22). This deletion has not been reported before. We compare the patient with the literature data.
Plomp
A S
AS
Division of Molecular Celbiology and Genetics, Academic Hospital, Maastricht, The Netherlands.
Schrander-Stumpel
C T
CT
Engelen
J J
JJ
Sijstermans
J M
JM
Loneus
W H
WH
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability