Figure 1 - uploaded by Thomas Liehr
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Patient's karyotype performed by: a) GTG-banding; one chromosome 17 was enlarged with an extra G-positive band (arrow). b) Partial karyotype after C-banding: one chromosome 17 shows extra C-positive region (arrowhead).
Source publication
Background: Heteromorphic variants including Yq12 material, being inserted or added to autosomal
chromosomes have been reported for chromosomes 1, 7, 11, 13, 14, 15, 21 and 22. Here we describe a novel
insertion of Yq12 heterochromatin into a chromosome 17; to the best of our knowledge no similar cases have been reported previously.
Methods: GTG-,...
Contexts in source publication
Context 1
... GTG-banding, an additional band was identified to be present in the long arm of one chromosome 17 in male patient's karyotype (Figure 1a). The band looked like an insertion of extra heterochromatin into 17q21. ...
Context 2
... band looked like an insertion of extra heterochromatin into 17q21. C-banding confirmed this suggestion (Figure 1b). FISH analysis using probes specific for RARA (17q21) and TP53 (17p13.1) ...
Context 3
... Y microdeletion PCR analyses excluded a common deletion (like azoospermia factor=AZF genes) in normal Y- chromosome, which could be causative for the infertility of the studied patient (result not shown) (Figure 3). ;q12q12)). The DAPI-positive heterochromatic band is highlighted by an arrowhead, where visible best. ...
Citations
... [15,32] Chromosomal polymorphism of 1, 7, 11, 17 autosomes with D and G groups were added in their studies too. Heteromorphism of 17 in a case was reported by insertion of q12 leading a novel chromosomal variant, [33] but no effect on fertility. Normal spermatogenesis occurs. ...
Background and Objectives: Human cell nucleus has, the genome consisting of euchromatin and heterochromatin. The euchromatin has gene-rich and actively functional. The heterochromatin has two components namely constitutive and facultative, where the former is highly polymorphic. It is related to numerous diseases like cancer and infertility which is now well known, though it was earlier thought to be inactive; hence the implication of these polymorphic variants of chromosomes is reviewed with respect to acrocentric and non- acrocentric types. Methodologies: The polymorphic variants can be detected by C, G, Q and R banding techniques. We usually follow G band preparation of karyotypes following World Health Organisation (WHO) manuals and their role in cancer and reproduction is reviewed. Review and Conclusion: It is emphasized that most of the p and q arms of 1, 9, 16, D and G groups and X, Y chromosomes exhibited polymorphism which are related to cancerous and infertile conditions in both sexes. Data on few non-acrocentric chromosomes like 2, 4, 8, 10, 12, 18, 19 and 20 are not available. Our review however indicated that the evaluation of specific heteromorphic variants needs to be detected using specific probes for confirmation of anomaly to assist affected cases, though earlier data indicated ambiguous information with few cases analyzed regarding assisted reproductive technologies and malignancy condition. This appraisal thus would play a key role in human chromosomal heteromorphic abnormalities and recommend genetic tests and counseling ultimately made available to the affected cases.
