1/3. Acute myelogeneous leukemia (M5a) that demonstrated chromosomal abnormality of robertsonian 13;21 translocation at onset.A 27-year-old woman had congenital lissencephaly syndrome and mental retardation. She had a fever of unknown origin and visited her local physician. blood test indicated leukocytosis, so she was referred to our hospital for detailed examination. She was diagnosed to have acute myelogeneous leukemia (M5a). The chromosome analysis in blast cells revealed Robertsonian 13;21 translocation. Complete remission was obtained by induction chemotherapy. As normal karyotype (46, XX) was observed in the chromosome analysis of bone marrow cells after remission, it was considered that the patient had acquired Robertsonian 13;21 translocation complicated by acute myelogeneous leukemia.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/3. Molecular and cytogenetic analysis of a familial microdeletion of Xq.cytogenetic analysis of a male infant referred for poor neurological development and failure to thrive showed a microdeletion of the x chromosome, his karyotype being 46,Y,del(X)(pter q21.1:: q21.2 qter). His mother and grandmother were also found to carry the deletion. dna probes were used to define the deletion molecularly and it was shown to span intervals 2 to 6 of Cremers et al, a portion of Xq that contains the TCD gene and genes whose absence is associated with deafness and mental retardation. RFLP analysis together with X inactivation studies using the probe M27 beta verified the carrier status of the female relatives and showed non-random X inactivation in the heterozygous females.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/3. hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, smith-lemli-opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |