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Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8

✍ Scribed by Heike Starke; Isolde Schreyer; Christine Kähler; Wolfgang Fiedler; Volkmar Beensen; Anita Heller; Angela Nietzel; Uwe Claussen; Thomas Liehr

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
219 KB
Volume
19
Category
Article
ISSN
0197-3851

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✦ Synopsis

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 combination of different cytogenetic (GTG-, NOR-, CBG banding), molecular cytogenetic (24 colourfluorescent in situ hybridization [FISH], three-colour FISH using centromeric probes for all human chromosomes) and molecular genetic techniques (microsatellite analysis). This is the first case described with such a minute SMC derived from chromosome 8 diagnosed prenatally, the 15th case reporting on a SMC originating from chromosome 8 and the third such case without any severe clinical features.

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✍ Demori, Eliana ;Devescovi, Raffaella ;Benussi, Daniela Gambel ;Dolce, Silvia ;Ca 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 2 views

## Abstract We report on a 3‐year‐old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FISH) studies, using centro