Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome).
Two boys are presented with the clinical features of cerebral gigantism and chromosomal variants which have not been described so far in this syndrome. In the first boy a de novo pericentric inversion of chromosome Y was found, the karyotypes of all other investigated family members were normal. The patient had an obstructive hypertrophic cardiomyopathy and atrial septal defect type II. The second boy had inherited pericentric inversion of the heterochromatic region of chromosome 9 from his mother. This chromosome 9 variant was also found in his sister who had a similar phenotype but without gigantism. Endocrine evaluation demonstrated normal results in both boys. The intellectual achievement in both cases was average.
Haeusler
G
G
Pediatric Department, University of Vienna, Austria.
Guchev
Z
Z
Köhler
I
I
Schober
E
E
Haas
O
O
Frisch
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D005877:Gigantism / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009483:Neuropsychological Tests; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014998:Y Chromosome