Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17)(q44;p13.2).
Liehr
Thomas
T
Heller
Anita
A
Eichhorn
Karl-Heinz
KH
Beensen
Volkmar
V
Schulze
Eberhart
E
Starke
Heike
H
Claussen
Uwe
U
Schreyer
Isolde
I
D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic / Q000235:genetics*