22 February 2022: Articles
Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6)
Diagnostic / therapeutic accidents, Rare disease
Marija Jurčenko B* , Madara Auzenbaha A , Ieva Mičule D , Ieva Grīnfelde A , Aigars Dzalbs D , Ieva Mālniece ADOI: 10.12659/AJCR.935370
Am J Case Rep 2022; 23:e935370
Figure 2. (A) The index case’s FISH karyotype: The green arrow denotes chromosome 1’s short arm’s terminal region translocated on to chromosome 6’s long arm. The red arrow indicates derivative chromosome 1. (B) IV-5’s FISH karyotype: The red arrow shows derivative chromosome 6 with chromosome 1’s short arm’s terminal region translocated on to it. Reagents used: 1pter CEB108/T7 (green)/1qter VIJyRM2123, 1QTEL10 (D1S3738) (orange)/CEP X (Xp11.1-q11.1) (aqua)/Xpter/Ypter DXYS129, DXYS153 (green+orange). Vysis ToTelVysion (Abbott Molecular, Inc.; USA) subtelomeric FISH probes, LSI p58 (1p36) microdeletion syndrome FISH probe (Abbott Molecular, Inc.) and XL CHD5 (1p36.3)/ABL2 (1q25) (MetaSystems; Germany).