α-thalassemia/mental retardation syndrome in a 45,X male

American Journal of Medical Genetics

Volumn 132 A, Issue 4, 2005, Pages 431-433

  Kellermayer, Richard ^a,c   Czakó, Márta ^a   Kiss László, Zsuzsanna ^b   Gyuris, Petra ^a   Kozári, Adrienn ^a   Melegh, Béla ^a   Kosztolányi, György ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b UNIVERSITY OF SZEGED   (Hungary)

^c University of Szeged ^*  (Hungary)

Author keywords

thalassemia; 16p; 45,X karyotype; Sertoli cell only syndrome; SRY; Y chromosome

Indexed keywords

ALPHA GLOBIN;

ALPHA THALASSEMIA; ARTICLE; AUTOSOME; CASE REPORT; CHILD; CHROMOSOME 16P; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION 16; CHROMOSOME TRANSLOCATION Y; CLINICAL FEATURE; DELAYED PUBERTY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; HUMAN; KARYOTYPE 45,X; KARYOTYPING; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SERTOLI CELL; SRY GENE; X CHROMOSOME; Y CHROMOSOME;

ADOLESCENT; ALPHA-THALASSEMIA; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, Y; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; SEX CHROMOSOME ABERRATIONS; SYNDROME; TRANSLOCATION, GENETIC;

EID: 12944333125     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30499     Document Type: Article

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