𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular and cytogenetic characterization of a prenatally ascertained de novo (X;Y) translocation

✍ Scribed by Speevak, M. ;Farrell, S.A. ;Chadwick, D.


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
49 KB
Volume
98
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prenatal evaluation of a de novo X;9 tra
✍ Feldman, Baruch; Kramer, Ralph L.; Ebrahim, Salah A.D.; Wolff, Dayna J.; Evans, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 11 KB πŸ‘ 2 views

A case of X-autosome translocation was diagnosed prenatally [46,X,t(X;9)(p21.3∼ 22.1;q22]. We describe the use of fluorescence in situ hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy (DMD) gene. X-inactivation studies were used as well to assess the probability of p

Molecular cytogenetic characterization o
✍ Heike Starke; Isolde Schreyer; Christine KΓ€hler; Wolfgang Fiedler; Volkmar Beens πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 219 KB πŸ‘ 1 views

The characterization of a prenatally detected very small (approximately half of 18p-(karyotype: 47,XX,+mar[16]/46,XX [7]) supernumerary marker chromosome (SMC) identified by GTG-banding analysis is described. The marker has been identified as derived from chromosome 8 centromeric material using a co

Molecular cytogenetic characterization a
✍ Tsezou, Aspasia; Kitsiou, Sofia; Galla, Angeliki; Petersen, Michael B.; Karadima πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 26 KB πŸ‘ 2 views

We report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second case was inverted. The extent of the direct dupli