Targeted carrier screening for four recessive disorders: High detection rate within a founder population

European Journal of Medical Genetics

Volumn 58, Issue 3, 2015, Pages 123-128

  Mathijssen, Inge B ^a   Henneman, Lidewij ^b   van Eeten Nijman, Janneke M C ^a   Lakeman, Phillis ^a   Ottenheim, Cecile P E ^a   Redeker, Egbert J W ^a   Ottenhof, Winnie ^c   Meijers Heijboer, Hanne ^a,b   van Maarle, Merel C ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Medical Center Waterland Oost   (Netherlands)

Author keywords

Autosomal recessive disorders; Carrier screening; Founder population; Outpatient clinic; Targeted

Indexed keywords

ADOLESCENT; ADULT; AKINESIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLUM HYPOPLASIA; CHONDRODYSPLASIA PUNCTATA; DNA DETERMINATION; FAMILY HISTORY; FEMALE; FETAL AKINESIA DEFORMATION SEQUENCE; FETUS DISEASE; GENE FREQUENCY; GENETIC COUNSELING; GENETIC SCREENING; GESTATIONAL AGE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE IIB; OSTEOGENESIS IMPERFECTA TYPE III; OUTPATIENT DEPARTMENT; PONTOCEREBELLAR HYPOPLASIA TYPE 2; PRENATAL DIAGNOSIS; RECESSIVE GENE; RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; ARTHROGRYPOSIS; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; FOUNDER EFFECT; GENETICS; MIDDLE AGED; OLIVOPONTOCEREBELLAR ATROPHIES; PEDIGREE; PREGNANCY; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; ARTHROGRYPOSIS; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC COUNSELING; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; OLIVOPONTOCEREBELLAR ATROPHIES; OSTEOGENESIS IMPERFECTA; PEDIGREE; PREGNANCY; YOUNG ADULT;

EID: 84924538587     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.01.004     Document Type: Article

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