Summary
The following research deals with the missing of the chromosome five's short arm that causes the cry of the cat syndrome or "Cri Du Chat".
The missings are unbalanced chromosomic aberrations that consist on the loss of a chromosome's fragment and they could be final, intersticial or in ring. The phenotype effect of the missing depends on the involved chromosome and the length of the missing segment. The assessment of this structural aberration is generally affected when dealing with short final or intersticial missings. A patient's peripheric blood sample was drawn for a lymphocytory culture as the request of assistant doctors due to the patient's phenotypical features, as well as the cry's characteristics and the laringeal whoop associated to chromosomopathies. The sample was processed and cultured according to the standard techniques in our lab. A final missing of the chromosome five's short arm in all the studied metastages was proved as a result of the cytogenetic post-natal diagnosis.
Keywords: missing, chromosome five, post natal diagnosis. |
