We report on a girl with Ullrich-Turner phenotype and 45,W47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left sh
✦ LIBER ✦
45,X/47,XYY mosaicism in a patient with Turner's syndrome
✍ Scribed by Rubén Lisker; Lizbeth Ruz; Osvaldo Mutchinick
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 135 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
A patient with classical Turner's syndrome and a 45,X/47,XYY mosaicism is described. Each cell line was present in approximately equal amounts in the peripheral blood lymphocytes, while in fibroblasts derived from skin and both gonads only the 45,X karyotype was present. It is suggested that the latter fact is responsible for the patient not having the mixed gonadal dysgenesis syndrome or tumor formation in both streak gonads.
📜 SIMILAR VOLUMES
Ullrich-Turner phenotype with unusual ma
✍
Franceschini, Piergiorgio; Guala, Andrea; Camerano, Patrizia; Franceschini, Dani
📂
Article
📅
1996
🏛
John Wiley and Sons
🌐
English
⚖ 13 KB
👁 3 views
X/X translocation in a patient with Turn
✍
H. Berghe; J. P. Fryns; C. Soyez
📂
Article
📅
1973
🏛
Springer
🌐
English
⚖ 259 KB
Turner phenotype in a girl with a 45,X/4
✍
Isabel Lorda-Sanchez; Maria Jose Trujillo; Pilar Gomez-Garre; Marta Rodríguez de
📂
Article
📅
2003
🏛
John Wiley and Sons
🌐
English
⚖ 146 KB
👁 2 views
Hypoplastic left heart in a patient with
✍
Bidot-López, Pascual ;Matisoff, David ;Talner, Norman S. ;Hsia, Y. Edward ;Hall,
📂
Article
📅
1978
🏛
John Wiley and Sons
🌐
English
⚖ 173 KB
👁 2 views
Recombinant chromosome 7 in a mosaic 45,
✍
Carlos A. Tirado; Garrett Gotway; Emmanuel Torgbe; Santha Iyer; Stephanie Dallai
📂
Article
📅
2011
🏛
John Wiley and Sons
🌐
English
⚖ 620 KB
Turner's syndrome in the male with chrom
✍
R. A. Pfeiffer; I. H. Pawlowitzki
📂
Article
📅
1967
🏛
Springer
🌐
English
⚖ 204 KB