A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization.
A newborn infant with multiple congenital anomalies was diagnosed with an unbalanced translocation of chromosomes 1 and 5. Studies of parental chromosomes revealed a complex rearrangement in the patient's mother involving the exchange of terminal long arms between chromosomes 1 and 5 and the insertion of an interstitial segment from the same chromosome 5q into chromosome 2q by high-resolution G-banding. Further study of the mother's chromosomes by fluorescent in situ hybridization (FISH) detected an additional insertion between the rearranged chromosomes 2 and 5, which was not revealed by G-banding. This led to the identification of a complex translocation-insertion between 3 chromosomes with at least 5 breaks [t(1;5;2)(1pter--> 1q42.3::5q23.2-->5qter;5pter-->5q21.2:: 2q33--> 2q35::1q42.3-->1qter;2pter-->2q33::5q21 .2--> 5q23.2::2q35-->2qter)] and illustrates the value of FISH as an adjunct to standard cytogenetics, particularly in cases of complex rearrangements.
Gibson
L H
LH
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.
McGrath
J
J
Yang-Feng
T L
TL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002895:Chromosomes, Human, Pair 5; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic