## Abstract The chromosome 9q subtelomere deletion syndrome (9qSTDS) is among the first and most common clinically recognizable syndromes to arise from widespread testing by fluorescent in situ hybridization (FISH) of subtelomere deletions. There are about 50 reported cases worldwide. Affected indi
Chromosome 5q subtelomeric deletion syndrome
✍ Scribed by Anita Rauch; Helmuth-Günther Dörr
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 173 KB
- Volume
- 145C
- Category
- Article
- ISSN
- 1552-4868
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We describe the phenotypes of two male sibs with partial monosomy of chromosome 5 [46,XY,der(5)inv ins(1;5)(p32;q35.4q34)]; maternally derived from a balanced insertion of 1 and 5 [inv ins (1;5)(p.32;q35.4q34)]. One sib had microcephaly, cleft lip and palate, facial anomalies, atrial (ASD) and ventr
We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac spe