Möbius-like syndrome associated with a 1;2 chromosome translocation.
We report here a rare case of Möbius-like syndrome associated with a 1;2 chromosome reciprocal translocation (46,XY,t(1;2)(p22.3;q21.1). The patient had facial diplegia, ptosis, anteverted nostrils, malformed and lowset ears, and slight developmental delay. Since a microdeletion could be present at the breakpoint in a reciprocal translocation, it is possible that the gene responsible for Möbius syndrome is located in this region of chromosome 1.
Nishikawa
M
M
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Ichiyama
T
T
Hayashi
T
T
Furukawa
S
S
D002878:Chromosomes, Human, Pair 1; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities; D011247:Pregnancy; D013577:Syndrome; D014178:Translocation, Genetic