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

American Journal of Medical Genetics

Volumn 117 A, Issue 3, 2003, Pages 289-294

  Stefanova, Margarita ^a,b   Atanassov, Dimitar ^a   Krastev, Tzaniu ^a   Fuchs, Sigrid ^b   Kutsche, Kerstin ^b  

^a MEDICAL UNIVERSITY OF PLOVDIV   (Bulgaria)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Absence or hypoplasia of nails and terminal phalanges; Gingival fibromatosis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 3P; CHROMOSOME 8Q; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 3; CLINICAL FEATURE; CYTOGENETICS; DISEASE ASSOCIATION; EAR MALFORMATION; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; GENE IDENTIFICATION; GENE MAPPING; GINGIVA FIBROMATOSIS; HAND MALFORMATION; HEPATOSPLENOMEGALY; HIRSUTISM; HUMAN; HUMAN CELL; JOINT HYPERMOBILITY; KARYOTYPE 46,XX; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NAIL HYPOPLASIA; NOSE MALFORMATION; PERIPHERAL LYMPHOCYTE; PHALANX; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SYNDROME; ZIMMERMANN LABAND SYNDROME; CHROMOSOME 3; CHROMOSOME 8; CHROMOSOME BANDING PATTERN; CHROMOSOME DISORDER; CONGENITAL MALFORMATION; FACIAL BONE; FAMILY HEALTH; FINGER; GENE TRANSLOCATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 8; FACIAL BONES; FAMILY HEALTH; FEMALE; FIBROMATOSIS, GINGIVAL; FINGERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PEDIGREE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 0042821874     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10174     Document Type: Article

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