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Ring chromosome 18 (46,XX,18r)

✍ Scribed by A. Cenani; R. A. Pfeiffer; H. A. Simon


Publisher
Springer
Year
1969
Tongue
English
Weight
106 KB
Volume
7
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES


A case of 46,XX,18p–/46,XX,r(18) mosaici
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Ring 10 chromosome: 46,XX,r10(p15q26)
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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, ga

Ring 11 chromosome (46,XX,r11(p15q25))
✍ Mario Valente; Helga Muller; Robert S. Sparkes πŸ“‚ Article πŸ“… 1977 πŸ› Springer 🌐 English βš– 317 KB

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