Diagnosis of chromosomal rearrangement by the banding staining method (Hebrew)

E. Eckstein, B. Goldman, B. Padeh

Research output: Contribution to journalArticlepeer-review

Abstract

Developments in differential staining have made it possible to identify each of the human chromosomes. Analysis of chromosomes by the Giemsa banding technique applied to the karyotypes of 2 cases revealed the structural rearrangement of the chromosomes involved. In a child with cerebral palsy, cytogenetic studies revealed an abnormal A3 chromosome. This was also detected in the mother, who is mentally ill, and in her healthy brother and mother. Chromosomal analysis by the Giemsa banding method revealed a large pericentric inversion involving one member of chromosome pair 3. Careful comparison of the proband's Giemsa stained karyotypes with those of the mother, grandmother and uncle, who all carry the same abnormal A3 chromosome, revealed no significant difference in the structure of the inverted chromosome 3. Thus, analysis of the karyotype in the family by this technique demonstrated the type of the structural rearrangements that occurred in the inverted chromosome 3' in 3 generations. The first child of a young couple showed features of Down's syndrome. Cytogenetically, the child was of 46, XY, -G, -G, +T (GqGq) chromosomal constitution, with 2 missing G chromosomes, replaced by an additional small metacentric one, probably a G/G translocation of the 'centric fusion' type. Cytogenetic examination of the parents revealed that the mother was a balanced carrier of the G/G translocation. Chromosomal analysis by the Giemsa banding method clearly showed that chromosomes 21 and 22 were translocated. Identification of the chromosomes involved in translocation is of crucial prognostic importance for genetic counselling. Carriers of 21/21 translocation always produce zygotes with Down's syndrome, while the children of carriers of 21/22 translocation can be normal, or balanced carriers of the translocated chromosome, or cases with Down's syndrome. The proband's mother is again pregnant and amniocentesis showed evidence of a fetus with normal chromosomal constitution.

Original languageEnglish
Pages (from-to)158-60+198
JournalHarefuah
Volume87
Issue number4
StatePublished - 1974
Externally publishedYes

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