Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis

Endocrine Journal

Volumn 58, Issue 9, 2011, Pages 769-776

  Richard, Nicolas ^a,b   Leprince, Céline ^a   Gruchy, Nicolas ^a   Pigny, Pascal ^c   Andrieux, Joris ^c   Mittre, Hervé ^a,b   Manouvrier, Sylvie ^c   Lahlou, Najiba ^d   Weill, Jacques ^c   Kottler, Marie Laure ^a,b  

^a CAEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE CAEN   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d Institut Cochin   (France)

Author keywords

46,XY disorders of sex development; Array Comparative Genomic Hybridization; Inactivating mutation; LHCGR gene; Prenatal diagnosis

Indexed keywords

FOLLITROPIN; INHIBIN B; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR; RECOMBINANT CHORIONIC GONADOTROPIN; TESTOSTERONE;

AMBIGUOUS GENITALIA; ARTICLE; CASE REPORT; CHILD; CLINICAL EFFECTIVENESS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA DETERMINATION; DNA SEQUENCE; EXON; FOLLOW UP; GENE; GENE DELETION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE BLOOD LEVEL; HORMONE DETERMINATION; HUMAN; INFANT; KARYOTYPE 46,XY; LHCGR GENE; MICROARRAY ANALYSIS; MISSENSE MUTATION; NEWBORN; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; SEQUENCE ANALYSIS; SEX DIFFERENTIATION DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; TESTOSTERONE BLOOD LEVEL;

46, XY DISORDERS OF SEX DEVELOPMENT; BASE SEQUENCE; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; ESTRADIOL; FEMALE; FOLLICLE STIMULATING HORMONE; HUMANS; LUTEINIZING HORMONE; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PRENATAL DIAGNOSIS; RECEPTORS, LH; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TESTOSTERONE;

EID: 80053914272     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K11E-119     Document Type: Article

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