Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development

Endocrine Journal

Volumn 60, Issue 12, 2013, Pages 1329-1334

  Nakashima, Shinichi ^a   Watanabe, Yoriko ^b   Okada, Junichiro ^b   Ono, Hiroyuki ^a   Nagata, Eiko ^a   Fukami, Maki ^c   Ogata, Tsutomu ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

Author keywords

45,X testicular DSD; PRKX PRKY; Xp; Yp translocation; Yp inversion

Indexed keywords

45,X TESTICULAR DISORDER OF SEX DEVELOPMENT; ARTICLE; ATLANTOAXIAL SUBLUXATION; AUDIOMETRY; BONE RADIOGRAPHY; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOME LOSS; CHROMOSOME TRANSLOCATION; CHROMOSOME XP; CHROMOSOME YP; COMPARATIVE GENOMIC HYBRIDIZATION; DISORDER OF SEX DEVELOPMENT; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; GROWTH DISORDER; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; JAPANESE; KARYOTYPE 45,X; KARYOTYPING; LIMB DEFORMITY; MALE; NEWBORN;

CHILD DEVELOPMENT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; GROWTH DISORDERS; HUMANS; INFANT, NEWBORN; JAPAN; MALE; TRANSLOCATION, GENETIC; TURNER SYNDROME;

EID: 84891397732     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.EJ13-0334     Document Type: Article

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