A case of de novo interstitial deletion of chromosome 5(q33q34).
The present paper describes a girl with a small de novo deletion of chromosome 5(q33q34). Fluorescence in situ hybridisation with locus specific probes was used to define the extent of this deletion. Clinical features in this patient are microcephaly, dysmorphic facial features such as epicanthus, small biparietal distance and retrognathia, four-finger lines on both hands and mild mental retardation.
Giltay
J C
JC
Clinical Genetics Center Utrecht, The Netherlands.
Gerssen-Schoorl
K B
KB
Luitse
G H
GH
Dauwerse
H G
HG
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008831:Microcephaly / Q000235:genetics / Q000473:pathology