Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: Pitfalls and molecular diagnostic solutions

Prenatal Diagnosis

Volumn 22, Issue 13, 2002, Pages 1171-1176

  Mao, Rong ^a   Nelson, Lesa ^a   Kates, Richard ^b   Miller, Christine E ^c   Donaldson, David L ^a   Tang, Wei ^a   Ward, Kenneth ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b Tri Cities Maternal Fetal Medicine   (United States)

^c UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

21 hydroxylase gene (CYP21) and pseudogene (CYP21P); Congenital adrenal hyperplasia (CAH); Gene conversion and rearrangement; Prenatal diagnosis

Indexed keywords

ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CYP21 GENE; CYP21P GENE; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; DNA DETERMINATION; DNA HYBRIDIZATION; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALE; MICROSATELLITE MARKER; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOGENE; SOUTHERN BLOTTING; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DIAGNOSTIC ERRORS; FEMALE; GENE CONVERSION; GENE REARRANGEMENT; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS; MOLECULAR DIAGNOSTIC TECHNIQUES; OLIGONUCLEOTIDE PROBES; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PRENATAL DIAGNOSIS; PSEUDOGENES; STEROID 21-HYDROXYLASE;

EID: 0036941273     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.467     Document Type: Article

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