De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure

Taiwanese Journal of Obstetrics and Gynecology

Volumn 50, Issue 3, 2011, Pages 339-344

  Chen, Chih Ping ^a,b,c,d   Su, Yi Ning ^e   Lin, Hung Hung ^a   Chern, Schu Rern ^a   Tsai, Fuu Jen ^c,f   Wu, Pei Chen ^a   Lee, Chen Chi ^a   Chen, Yu Ting ^a   Wang, Wayseen ^a,g  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^f CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^g TATUNG UNIVERSITY   (Taiwan)

Author keywords

Duplication of Xq; Mental retardation; NXF gene cluster; PGRMC1; Premature ovarian failure

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE DISRUPTION; HUMAN; KARYOTYPING; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PARTIAL TRISOMY; PHENOTYPE; PREMATURE OVARIAN FAILURE; PSYCHOMOTOR RETARDATION; SHORT STATURE;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; BODY HEIGHT; CHROMOSOMES, HUMAN, X; FEMALE; GENE DUPLICATION; HUMANS; INTELLECTUAL DISABILITY; MEMBRANE PROTEINS; MYELIN PROTEOLIPID PROTEIN; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; PRIMARY OVARIAN INSUFFICIENCY; RECEPTORS, PROGESTERONE; RNA-BINDING PROTEINS; YOUNG ADULT;

EID: 82455175345     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2011.01.018     Document Type: Article

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