Genitourinary phenotype in XX patients with distal 9p monosomy

Molecular Genetics and Metabolism

Volumn 82, Issue 2, 2004, Pages 173-179

  Fujimoto, Yoko ^a,b   Okuyama, Torayuki ^a   Iijima, Makoto ^a   Tanaka, Toshiaki ^a   Horikawa, Reiko ^a   Yamada, Koichiro ^b   Ogata, Tsutomu ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b SHOWA UNIVERSITY FUJIGAOKA HOSPITAL   (Japan)

Author keywords

9p monosomy; Genitourinary development; Ovarian development; Penetrance; Sex determination

Indexed keywords

CREATININE; ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE; UREA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 9P; CHROMOSOME BREAKAGE; CLINICAL FEATURE; CREATININE BLOOD LEVEL; ESTRADIOL BLOOD LEVEL; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLITROPIN BLOOD LEVEL; GENE LOCUS; GENE MAPPING; HEMIZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KARYOTYPE 46,XX; LUTEINIZING HORMONE BLOOD LEVEL; MENARCHE; MICROSATELLITE MARKER; MONOSOMY X; PRIORITY JOURNAL; SEX HORMONE DETERMINATION; TELOMERE; UREA NITROGEN BLOOD LEVEL;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 9; CHROMOSOMES, HUMAN, X; FEMALE; GONADAL DYSGENESIS, 46,XX; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MICROSATELLITE REPEATS; MONOSOMY; PHENOTYPE; UROGENITAL SYSTEM;

LABIA;

EID: 2542462095     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.04.003     Document Type: Article

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