Abnormal chromosome 9 in a neonate program. Report of three cases
Nakamura, Y.; Sato, E.; Sakai, K.; Sakuma, S.; Hashimoto, T.; Sindou, S.
Archives of Pathology and Laboratory Medicine 114(2): 185-187
1990
ISSN/ISBN: 0003-9985 PMID: 2302035 Document Number: 357232
We describe three cases with abnormal chromosome 9. Patient 1 shows translocation in a homologous chromosome, with a karyotype of 46,XX,t(9;9)(9pter .fwdarw. cen .fwdarw. 9pter; 9qter .fwdarw. cen::9q13 .fwdarw. 9qter), 1qh+. This case has a variety of anomalies, including brain anomalies. Patient 2 shows a partial trisomy 9p with a karyotype of 47,XY,+del(9)(pter .fwdarw. q11:). The patient has the typical clinical features of 9p trisomy syndrome. Patient 3 is unique because of partial 9p tetrasomy mosaicism without phenotypic abnormalities; the karyotype is mos 46,XY/47,XY,+dic(9)(pter .fwdarw. cen .fwdarw. q21::q21 .fwdarw. cen .fwdarw. pter).