Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).
We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible.
Kroes
H Y
HY
Department of Medical Genetics, University of Groningen, The Netherlands.
Tuerlings
J H
JH
Hordijk
R
R
Folkers
N R
NR
ten Kate
L P
LP
D000015:Abnormalities, Multiple; D000328:Adult; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006257:Head / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics