Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A

European Journal of Human Genetics

Volumn 8, Issue 3, 2000, Pages 229-235

  Bernard, Rafaëlle ^a   Labelle, Véronique ^a   Negre, Philippe ^a   Tardieu, Sandrine ^b   Azulay, Jean Philippe ^a   Malzac, Perrine ^a   Mattéi, Jean François ^a   Leguern, Eric ^b   Philip, Nicole ^a   Lévy, Nicolas ^a  

^a TIMONE HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Charcot Marie Tooth; CMT1A; CMT7A REPs; Genetic counselling; PCR; Prenatal diagnosis; Recombination

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CONTROLLED STUDY; FEMALE; GENETIC RECOMBINATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; FETAL DISEASES; GENE DUPLICATION; HUMANS; MICROSATELLITE REPEATS; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; RECOMBINATION, GENETIC;

EID: 0034077309     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200433     Document Type: Article

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