Molecular-cytogenetic analysis of similar Y chromosome rearrangements in patients with different phenotypes
- Universite de Montreal, Quebec (Canada); and others
This study was performed on Y chromosome anomalies, detected in patients referred for diagnostic purpose, using specific probes and fluorescence in situ hybridization (FISH). We report here on 6 patients with different phenotypes presenting cytogentically similar rearrangements of the Y chromosome. Two patients, one with a female phenotype and the other with sexual ambiguity, showed the mosaic chromosomic formula : 45,X/46,X,idic(Y). In both cases, a dicentric isochromosome is present containing two copies of the short arms, the centromere and of the proximal part of the long arms. Two other patients, with male phenotypes (one with clinical anomalies), have the homogeneous formula; 46,X,idic(Yp). Here the dicentric isochromosome involves only the short arms and the centromere. The long arms are almost totally absent since the centromeres are situated very close together. Another female patient, besides a monosomic X cell line, showed a dicentric Y isochromosome composed of two copies of the long arms, the centromere and the proximal portion of the short arms. The point of fusion of the two Ys appears to be very close to the telomeric region. Finally, a boy presented a more complex rearrangement of the Y chromosome. The chromosomic formula is 45,X/46,X,inv dup(Y). We are here in the presence of a duplication of the heterochromatic region of the long arms, inverted and attached to the distal end of the short arms. Most of these anomalies cannot be precisely described with the standard cytogenetic techniques and yet the identification of the Y regions concerned can be extremely important for evaluation of the genetic evolution of the patient and the therapeutic decision. In situ hybridization contributed greatly to the precision of the analysis.
- OSTI ID:
- 133652
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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