Holoprosencephaly due to numeric chromosome abnormalities

Holoprosencephaly: An update on cytogenetic abnormalities.

Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several recurrent chromosomal anomalies predicting different HPE loci. Subseque...

Holoprosencephaly in deletions of proximal chromosome 14q.

Lysergide and chromosome abnormalities.

Chromosome Abnormalities in Leukemia

The renewed interest in the study of chromosome abnormalities in hematologic malignancies, particularly in the leukemias, is the result of technical improvements which permit the precise identification of each human chromosome, and of parts of chromosomes as well. The information obtained raises a number of questions regarding the validity of older notions, such as the variability of the chromo...

[Chromosome abnormalities in neuroblastoma].

The case is briefly reported of a 7-month-old boy with a disseminated neuroblastoma, whose marrow showed neuroblastoma rosettes and on direct examination on two occasions revealed a high proportion of cells with 48 chromosomes forming an abnormal cell line.