Broad-spectrum Möbius syndrome associated with a 1;11 chromosome translocation.
The authors report a case of Möbius syndrome with Poland syndrome, cleft palate, dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss. Karyotype demonstrated a t(1;11)(p22;p13) translocation in the patient and his phenotypically normal father and brother. This case extends the spectrum of congenital disorders that are associated with Möbius syndrome and raises the possibility of genetic heterogeneity for the Möbius disorder.
Donahue
S P
SP
Department of Ophthalmology, University of Pittsburgh School of Medicine, PA.
Wenger
S L
SL
Steele
M W
MW
Gorin
M B
MB
D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D005158:Facial Paralysis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics*; D014178:Translocation, Genetic