Do morphological anomalies reflect chromosomal aneuploidies?

Citation
S. Viville et al., Do morphological anomalies reflect chromosomal aneuploidies?, HUM REPR, 15(12), 2000, pp. 2563-2566
Citations number
19
Categorie Soggetti
Reproductive Medicine","da verificare
Journal title
HUMAN REPRODUCTION
ISSN journal
02681161 → ACNP
Volume
15
Issue
12
Year of publication
2000
Pages
2563 - 2566
Database
ISI
SICI code
0268-1161(200012)15:12<2563:DMARCA>2.0.ZU;2-W
Abstract
In cases of severe teratozoospermia, the current morphological criteria use d to assess chromosomal status is insufficient for the selection of spermat ozoa for intracytoplasmic sperm injection (ICSI), Case histories are report ed of four patients presenting 100% teratozoospermia, and the integrity of their individual chromosomal statuses is determined using a three-colour fl uorescence in-situ hybridization (FISH) technique, Patient 1 presented shor tened flagella syndrome, patient 2 globozoospermia, patient 3 spermatozoa w ith irregular acrosomes, and patient 3 macrocephalic spermatozoa with assoc iated multiple flagella, Three-colour FISH analysis using chromosome X, Y a nd 1 -specific probes showed that similar to 95% of the spermatozoa analyse d from patients 1, 2 and 3 presented X,1 and Y,1 signals, X,Y ratios and an euploidy/diploidy rates comparable with those observed in normal controls, In contrast, patient 4 showed a highly elevated Y to X sex ratio and a high ly elevated aneuploidy/diploidy rate. Three-colour FISH analysis thus demon strates an increased incidence of chromosomal abnormalities in association with macrocephalic spermatozoa, Moreover, the analysis shows that in patien ts affected with either globozoospermia, shortened flagella syndrome or a c ondition of abnormal acrosomal spermatozoa, no association exists between c hromosomal status and phenotype, Since these patients display normal haploi d, sex chromosome and aneuploidy status, ICSI can be conceivably offered as a treatment for their infertility.