## Abstract Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. Data on long‐term outcomes are not available. We report on the out
Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14
✍ Scribed by Roberta Santos Guilherme; Vera de Freitas Ayres Meloni; Claudete Palmer Sodré; Denise Maria Christofolini; Renata Pellegrino; Claudia Berlim de Mello; Laura Kathleen Conlin; Anne Lawlor Hutchinson; Nancy Bettina Spinner; Decio Brunoni; Leslie Domenici Kulikowski; Maria Isabel Melaragno
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 152 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome (47,XX,+idic(Y)(q12)), a combination which has to the best of our knowledge not been reported before. The patient was hospitalized in forensic psychiatry because of repeated delinquency, aggressive, a
## Abstract A four‐month‐old white female, who was referred to us for genetic evaluation because of severe developmental delay, dysmorphic features, and bilateral cataracts, was found by routine cytogenetic analysis to have ring chromosome 16 in almost all cells analyzed. Ring chromosome 16 was con
Geleophysic dysplasia (MIM \*231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, joint contractures, and a good-natured facial appearance. Infiltration of liver and cardiac leaflets has been reported in some patients. Based on the clinical