Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome.
Maróti
Zoltán
Z
Kutsche
Kerstin
K
Sutajova
Marketa
M
Gal
Andreas
A
Nothwang
Hans Gerd
HG
Czeizel
Andrew E
AE
Tímár
László
L
Sólyom
Enikö
E
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D009202:Cardiomyopathies / Q000473:pathology; D019457:Chromosome Breakage; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology; D012868:Skin Abnormalities / Q000473:pathology; D013577:Syndrome; D014178:Translocation, Genetic