Presumed mutation in a microsatellite marker mimicking segmental uniparental disomy in a case of a small supernumerary marker chromosome detected at prenatal diagnosis.
von Eggeling
F
F
Langer
S
S
Hoppe
C
C
Liehr
T
T
Weise
A
A
Lederer
G
G
Kotzot
D
D
D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*