De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH.
We report on a child with ptosis, epicanthal folds, depressed nasal bridge, carp-shaped mouth, low set ears, hirsutism, pectus excavatum, and developmental and language delay presenting with a balanced complex chromosomal rearrangement (CCR). R- and G-banding methods and fluorescence in situ hybridization were used to document that this is a complex translocation with five breakpoints involving chromosomes 1, 7, 10 and 21.
Curotti
G
G
Laboratoire Marcel Mérieux, Lyon, France.
Benkhalifa
M
M
Raybaud
C
C
Picard
F
F
Bellec
V
V
Qumsiyeh
M B
MB
D000015:Abnormalities, Multiple / Q000235:genetics*; D018929:Cell Culture Techniques; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008214:Lymphocytes; D014178:Translocation, Genetic / Q000235:genetics*