𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome

✍ Scribed by Graham, B.H. ;Bacino, C.A.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
139 KB
Volume
119A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Telomeric fusion and chromosome instabil
✍ Sawyer, Jeffrey R.; Swanson, Charles M.; Lukacs, Janet L.; Hassed, Susan J.; Cur πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 445 KB πŸ‘ 2 views

We describe the cytogenetic evolution of multiple cell lines in the gonadal tissue of a 10-year-old girl with mosaic Ullrich-Turner syndrome (UTS) involving clonal telomeric associations (tas) of the Y chromosome. Gband analysis of all tissues showed at least 2 cell lines; 45, X and 46,X,tas(Y;21)(q

Molecular and cytogenetic characterizati
✍ Wolfram Heinritz; Dieter Kotzot; Stefan Heinze; Annegret Kujat; Werner J. Kleema πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 169 KB πŸ‘ 2 views

## 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

PCR detection of Y-specific sequences in
✍ Osipova, G.R.; Karmanov, M.E.; Kozlova, S.I.; Evgrafov, O.V. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 views

Cytogenetic analysis of patients with Ullrich-Turner syndrome (UTS) may fail to detect low levels of Y chromosome mosaicism or Y-derived marker chromosomes. More sensitive polymerase chain reaction (PCR)-based tests have been developed; however, applicability of these data to prognosis of virilizati

Molecular and clinical characterization
✍ Gabriela Calounova; Petra Hedvicakova; Eva Silhanova; Gabriela Kreckova; Zdenek πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 293 KB πŸ‘ 2 views

## Abstract Prader–Willi syndrome (PWS) is caused by the disturbed expression of genes from the imprinted region of 15q11‐q13, but the specific contributions of individual genes remain unknown. Most paternal PWS deletions are bracketed by recurrent breakpoints BP1 or BP2 and BP3. Atypical deletions