We present a 16-month-old boy with developmental delay, minor anomalies, small penis, and lymphedema of the upper limbs. Routine cytogenetic analysis suspected a duplication of 5q. Fluorescent in situ hybridization (FISH) with a cosmid probe (MCC at the 5q22 APC region) showed tandemly duplicated fl
Incidence of aneuploid spermatozoa among infertile men studied by multicolor fluorescence in situ hybridization
✍ Scribed by Lähdetie, Jaana; Saari, Nina; Ajosenpää-Saari, Mari; Mykkänen, Juha
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 41 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970711)71:1<115::aid-ajmg21>3.0.co;2-o
No coin nor oath required. For personal study only.
✦ Synopsis
We studied by fluorescence in situ hybridization the frequency of aneuploidy in spermatozoa of 12 infertile men: 8 with normal or nearly normal semen analysis values and 4 with oligo-astheno-teratozoospermia. The control group consisted of 18 normal healthy fertile men. Probes for chromosome 1 and 7 were used and 10,000 spermatozoa per individual were scored. The hybridization efficiency was good (higher than 98%). In the group with nearly normal semen analysis values the frequencies of spermatozoa disomic for chromosome 1 or chromosome 7 were 0.08% and 0.07%, respectively, and not elevated compared to controls (0.10% and 0.06%, respectively). The frequency of diploid spermatozoa was 0.17%, not significantly different from the control group (0.15%) either. In the group of oligoastheno-teratozoospermic men both the frequencies of disomic cells for chromosome 1 (0.22%) and for chromosome 7 (0.13%) and of diploid spermatozoa (0.56%) were significantly higher compared to controls, although this was mainly due to one patient with high frequencies of hyperploid sperm. The results indicate that infertility may be a risk factor for chromosomal aneuploidy in spermatozoa.
📜 SIMILAR VOLUMES
Fig. 1. a: Representative GTG-banded chromosome 15s demonstrating lack of a detectable deletion, b: representative cell from FISH analysis demonstrating the normal signal pattern for SNRPN found in 11/39 cells, and c: Representative cell from the same FISH analysis demonstrating a deletion of SNRPN
A 20-year-old man with multiple anomalies caused by a de novo duplication of the long arm of chromosome 1 is presented. The patient suffers from severe mental retardation, epilepsy, bronchial stenosis, and minor anomalies (e.g., hirsutism, midface dysplasia, and beaked nose). A G-banding analysis of
Only a few cases of de novo complex chromosome rearrangements (CCRs) in amniotic fluid have been reported [
We describe a de novo dup 17p11 in a boy with Alport syndrome, mild mental retardation, and minor anomalies. Combining classical and molecular cytogenetics analyses, the karyotype was defined as 46,XY.ish dup (17)(p11.2p11.2)(D17S29++,D17S379+). Alport syndrome is associated with mutations in the ty