Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?
We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been reported in most of the previously described cases. A comparison of the features of the present patient with those in previously reported cases suggests the deletion 2q23q24 to be a clinically recognizable syndrome.
Maas
S M
SM
Department of Clinical Genetics, University of Amsterdam, The Netherlands. S.M. Maas@AMC.UVA.NL
Hoovers
J M
JM
van Seggelen
M E
ME
Menzel
D M
DM
Hennekam
R C
RC
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002873:Chromosome Fragility; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome