Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation

• Published in: Genetic counseling Vol. 19; no. 1; pp. 29 - 35
• Main Authors: Tüysüz, B, Demirel, A, Uysal, S, Beyer, V, Bartsch, O
• Format: Journal Article
• Language: English
• Published: Switzerland Éditions Médecine et Hygiène 2008
• Subjects: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Banding; Chromosome Painting; Chromosomes, Human, Pair 7; Gene Duplication; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Male; Phenotype; Spasms, Infantile - genetics; Translocation, Genetic - genetics; Turkey; Turkey
• ISSN: 1015-8146

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.