Low or absent unconjugated estriol in pregnancy: An indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis

Prenatal Diagnosis

Volumn 22, Issue 11, 2002, Pages 1028-1032

  Kashork, Catherine D ^a   Sutton, V Reid ^a   Allen, Jill S Fonda ^b   Schmidt, Deborah E ^c   Likhite, Marisa L ^d   Potocki, Lorraine ^a   O'Brien, William E ^a   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Center for Maternal Fetal Medicine   (United States)

^c QUEEN S MEDICAL CENTER   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Contiguous gene deletion syndrome; Genetic testing; Ichthyosis; Laboratory diagnostics; Microdeletion; Steroid sulfatase (STS); Unconjugated estriol (uE3)

Indexed keywords

ESTRIOL; STERYL SULFATASE; ARYLSULFATASE; BIOLOGICAL MARKER;

ADULT; AMNION FLUID; ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE DELETION; HUMAN; HUMAN TISSUE; ICHTHYOSIS; MALE; MATERNAL SERUM; PRESCHOOL CHILD; PRIORITY JOURNAL; BLOOD; CYTOLOGY; ENZYMOLOGY; GENETICS; METHODOLOGY; NEWBORN; PREGNANCY; PRENATAL DIAGNOSIS; SPECTRAL KARYOTYPING; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ADULT; AMNIOTIC FLUID; ARYLSULFATASES; BIOLOGICAL MARKERS; CHROMOSOMES, HUMAN, X; ESTRIOL; FEMALE; FOLLOW-UP STUDIES; GENE DELETION; GENETIC DISEASES, X-LINKED; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; PREGNANCY; PRENATAL DIAGNOSIS; SPECTRAL KARYOTYPING; STERYL-SULFATASE;

EID: 0036857869     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.466     Document Type: Article

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