Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Genetic testing in our cohort of 45 patients
| Genetic testing | Patients tested, n (%) | Positive results, n (%) |
|---|---|---|
| Karyotype | 27 (60.0) | 4 (14.8) |
| CGH | 14 (31.1) | 1 (7.1) |
| DEB test | 14 (31.1) | 2 (14.3) |
| FISH 22q11.2 | 9 (20.0) | 0 (0.0) |
| Targeted testing | 3 (6.7) | 0 (0.0) |
| Subtelomeric FISH | 2 (4.4) | 0 (0.0) |
| FISH trisomy 13, 18, 21 | 1 (2.2) | 0 (0.0) |
| FISH monosomy 5q, 7q | 1 (2.2) | 0 (0.0) |
| FISH trisomy 8 | 1 (2.2) | 0 (0.0) |
| Exome sequencing | 1 (2.2) | 0 (0.0) |
CHG, comparative genomic hybridization; DEB, diepoxybutane.
