Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8.
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 colour-fluorescent 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.
Starke
H
H
Institute of Human Genetics and Anthropology, Jena, Germany.
Schreyer
I
I
Kähler
C
C
Fiedler
W
W
Beensen
V
V
Heller
A
A
Nietzel
A
A
Claussen
U
U
Liehr
T
T
D000328:Adult; D000649:Amniocentesis; D002898:Chromosomes, Human, Pair 8; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018895:Microsatellite Repeats; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis*