Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: Necessity of a multidisciplinary approach for heterogeneous disorders

European Journal of Human Genetics

Volumn 10, Issue 5, 2002, Pages 297-302

  Bernard, Rafaëlle ^a   Boyer, Amandine ^a   Nègre, Philippe ^a   Malzac, Perrine ^a   Latour, Philippe ^b   Vandenberghe, Antoon ^b   Philip, Nicole ^a   Lévy, Nicolas ^a,c  

^a TIMONE HOSPITAL   (France)

^b Hopital de l'Antiquaille   (France)

^c INSERM   (France)

Author keywords

Charcot Marie Tooth; CMT1A; Genetic counseling; Preimplantation genetic diagnosis; Prenatal; STRs

Indexed keywords

CHROMOSOME PROTEIN;

ARTICLE; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DISABILITY; DISEASE SEVERITY; DOMINANT INHERITANCE; EXPERIENCE; GENETIC COUNSELING; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH RISK PREGNANCY; HUMAN; LETHALITY; MOLECULAR GENETICS; PREDICTION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; RELIABILITY; SYMPTOMATOLOGY; TANDEM REPEAT; VALIDATION PROCESS;

CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; FETAL DISEASES; GENE DELETION; GENETIC HETEROGENEITY; GENETIC MARKERS; HUMANS; MALE; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0036064647     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200804     Document Type: Article

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