Phenotype–genotype correlation of a patient with a “balanced” translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion
✍ Scribed by Eleftheria Papadopoulou; Carolina Sismani; Christodoulos Christodoulou; Marios Ioannides; Maria Kalmanti; Philippos Patsalis
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 192 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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Genotype-phenotype correlation was originally attempted by Miyake et al. [2004] and refined by Failla et al. [2008] based on a 4.5 Mb deleted segment shared by three affected individuals. These three individuals had in common psychomotor and growth retardation, disturbance in extraocular motility, p
## Abstract The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal growth retardation, and sometimes malformations of the heart and brain. The individuals have some typical features, which might be easy to overlook and which are: