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
Ring chromosome 15; 46,XX,r(15) (p11q26) in a girl
โ Scribed by Hiroko Fujita; Hideo Matsumoto
- Publisher
- Nature Publishing Group
- Year
- 1978
- Tongue
- English
- Weight
- 408 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1435-232X
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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
A ring chromosome 22 is described in a 6-year-old mentally retarded boy, who presented a dysmorphic syndrome. The ring chromosome 22 was inherited from the mother, in whom a 46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11) mosaic karyotype was found, indicating a high degree of instability of the