Deletion (9) (p13.1 p21.1).
We report on a 22-month-old girl with minor facial anomalies, global developmental delay, growth retardation, seizures, and leukoencephalopathy. Initial clinical assessment suggested the diagnosis of Williams syndrome. Results of fluorescence in situ hybridization testing for elastin were normal. However, chromosome analysis showed a 46,XX,del(9)(p13.1p21.1) karyotype in peripheral lymphocytes. Parental chromosomes were normal, indicating a de novo deletion. This patient's manifestations are compared with those of two other cases with overlapping deletions of the proximal short arm of chromosome 9.
Scaglia
F
F
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Bodamer
O A
OA
Berend
S A
SA
Adam
L R
LR
Shaffer
L G
LG
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D015140:Dementia, Vascular / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008957:Models, Genetic; D009006:Monosomy