Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.
We report a 15 month old boy with prominent metopic suture, epicanthal folds, strabismus, low-set ears, microretrognathia, large anterior fontanel, bilateral simian creases, muscular hypotonia, and severe psychomotor retardation. He also had West syndrome. An electroencephalogram showed hypsarrythmia, and cranial MR indicated a myelinisation delay. Standard karyotyping showed additional material on one chromosome 9p. Using FISH, a terminal 7q duplication spanning 26 Mb in size and a terminal 9p deletion sized (at least) 9.1 Mb were identified. The father had a karyotype of t(7;9)(q33;p23) and the mother's karyotype was normal. The boy presented typical facial features of the distal 7q duplication syndrome but no genital anomalies attributable to his distal 9p deletion. We assume that the severe epilepsy is likely due to the trisomy 7q.
Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey. beyhan@istanbul.edu.tr
B
B
Tüysüz
A
A
Demirel
S
S
Uysal
V
V
Beyer
O
O
Bartsch
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D020223:Chromosome Painting; D002897:Chromosomes, Human, Pair 7; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013036:Spasms, Infantile / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D014421:Turkey