Satellited chromosome 9 in a boy with multiple anomalies.
A 5-year-old boy with multiple congenital anomalies showed a satellited long-arm chromosome 9, a previously undescribed abnormality. Various banding analyses of his chromosomes and those of his parents indicated that a reciprocal translocation, t(9;22)(q34.3;q11.21), occurred in the father's gonad, and one of the translocation chromosomes was then transmitted to the patient. Thus, the patient's karyotype was interpreted as 46,XY,-9,+psudic(9),t(9;22)(q34.3;q11.21). He showed several features similar to those of the Williams syndrome. The gene(s) responsible for the syndrome thus could be at either 9q34.3-qter or 22pter-q11.2. Southern blot analysis of the patient's DNA indicated the presence of two copies of the argininosuccinate synthetase gene which had been assigned to 9q34.1-qter. In view of the fact that the 9q34.3-qter segment is monosomic in the patient, the gene locus was deduced to be at 9q34.1-q34.2 segment.
Harada
N
N
Abe
K
K
Kondoh
T
T
Hirota
T
T
Niikawa
N
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D001124:Argininosuccinate Synthase / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D008297:Male; D014178:Translocation, Genetic
D001124:Argininosuccinate Synthase