Ring 10 chromosome: 46,XX,r10(p15q26)
โ Scribed by Robert S. Sparkes; Shun M. Ling; Helga Muller
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 285 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
โฆ Synopsis
A teenage girl with mild retardation and some clinical features suggestive of the Turner syndrome was found to have an r10(p15q26) in blood and skin cells. Quantitative evaluation of 28 red cell enzymes, including two (hexokinase and glutamic-oxalocetic transaminase) known to be on chromosome 10, gave normal values.
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A girl has a stable chromosome 11, which does not reveal loss of any chromosomal material. She demonstrates small stature, mild retardation, behavior problems, mild abnormal EEG, prominent sole furrow, increased deep tendon reflexes and hypothyroidism; this latter condition may have contributed to h