Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions.
Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Other more variable features include hyperextensibility of joints, hepatosplenomegaly, mild hirsutism, and mental retardation. The genetic basis of ZLS is unknown; autosomal dominant inheritance has been suggested. We report an apparently balanced chromosomal aberration, 46,XX, t(3;8)(p13-p21.2;q24.1-q24.3), in a family with an affected mother and daughter. Using fluorescence in situ hybridization with BAC clones, we refined the breakpoints to 3p21.2 and 8q24.3 and, thereby, narrowed down both breakpoint regions to approximately 1.5 Mb. Our data provide additional support to the assumption that ZLS follows autosomal dominant inheritance. The 3;8 translocation described here represents a powerful resource to identify the causative gene for ZLS that maps most likely to one of the breakpoints.
Stefanova
Margarita
M
Department of Medical Genetics, Medical University, Plovdiv, Bulgaria.
Atanassov
Dimitar
D
Krastev
Tzaniu
T
Fuchs
Sigrid
S
Kutsche
Kerstin
K
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D019457:Chromosome Breakage / Q000235:genetics; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005192:Family Health; D005260:Female; D005351:Fibromatosis, Gingival / Q000473:pathology; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic