Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure

Human Reproduction

Volumn 23, Issue 1, 2008, Pages 222-226

  Tachdjian, Gérard ^a   Aboura, Azzedine ^a,b   Portnoï, Marie France ^c   Pasquier, Maud ^c   Bourcigaux, Nathalie ^c   Simon, Tabassome ^d   Rousseau, Ghislaine ^a   Finkel, Lina ^c   Benkhalifa, Moncef ^e   Christin Maitre, Sophie ^c  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c HÔPITAL SAINT ANTOINE   (France)

^d URC EST Hôpital   (France)

^e ATL R and D   (France)

Author keywords

Deletion; Duplication; Microarray CGH; Premature ovarian failure; X chromosome

Indexed keywords

FOLLITROPIN; HOMEODOMAIN PROTEIN; SHOX PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOME; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME XQ; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DUPLICATION; GENETIC ANALYSIS; HUMAN; MENOPAUSE; MICROARRAY ANALYSIS; PREMATURE OVARIAN FAILURE; SHOX GENE; X CHROMOSOME; CHROMOSOME DELETION; DNA MICROARRAY; GENETICS; NUCLEIC ACID HYBRIDIZATION;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OVARIAN FAILURE, PREMATURE;

EID: 40549085016     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dem358     Document Type: Article

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