Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE)

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 1, 2010, Pages 191-196

  Mercier, Sandra ^d   Dubourg, Christèle ^d   Belleguic, Marion ^d   Pasquier, Laurent ^d   Loget, Philippe ^d   Lucas, Josette ^d   Bendavid, Claude ^d   Odent, Sylvie ^a,b,c  

^a UNIVERSITÉ DE RENNES 1   (France)

^b SERVICE DE RHUMATOLOGIE   (France)

^c Center of Reference Rare Diseases   (France)

^d NONE

Author keywords

Genetic counseling; Holoprosencephaly; HPE; Prenatal diagnosis

Indexed keywords

TERATOGENIC AGENT;

AMNION FLUID ANALYSIS; CHILD; CHORION VILLUS; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; ENVIRONMENTAL FACTOR; FAMILY HISTORY; FETUS; FETUS ECHOGRAPHY; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HEMISPHERE; HOLOPROSENCEPHALY; HUMAN; HYPOTELORISM; KARYOTYPE; MUTATOR GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; REVIEW; RISK ASSESSMENT; RISK FACTOR; SHH GENE; SIX3 GENE; TGIF GENE; ZIC2 GENE;

CYTOGENETIC ANALYSIS; FEMALE; GENETIC COUNSELING; GENETIC TESTING; HOLOPROSENCEPHALY; HUMANS; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 76149122870     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30246     Document Type: Review

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