We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in
β¦ LIBER β¦
Identification of a familial robertsonian translocation t(13q14q) by means of thermic moderated denaturation
β Scribed by C. Stoll; J. M. Levy
- Publisher
- Springer
- Year
- 1973
- Tongue
- English
- Weight
- 546 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0340-6717
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## Communicated by Jurgen Horst Molecular characterization of chromosomal rearrangements is a powerful resource in identification of genes associated with monogenic disorders. We describe the molecular characterization of a balanced familial chromosomal translocation, t(16;22)(p13.3;q11.2), segreg