We report the first case of an apparent de novo pericentric inversion of chromosome 2 at the breakpoints p13ql1.2 that was detected prenatally. Follow-up performed over 4 years showed phenotypic abnormalities including minor craniofacial dysmorphism, hypotonia, hearing loss, gustatory flushing syndr
โฆ LIBER โฆ
Inversion of chromosome 2 (p11p13): Frequency and implications for genetic counselling
โ Scribed by I. M. Mac Donald; D. M. Cox
- Publisher
- Springer
- Year
- 1985
- Tongue
- English
- Weight
- 418 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0340-6717
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## Abstract A series of 125 patients referred primarily with aniridia classified as either sporadic (74), familial (24), or in association with WAGR syndrome (14) or other malformations (13) was analysed for mutations, initially by karyotyping and targeted FISH analysis of chromosome 11p13. These m