Autosomal insertional translocation mimicking an X-linked mode of inheritance

European Journal of Medical Genetics

Volumn 56, Issue 1, 2013, Pages 46-49

  Thierry, Gaelle ^a   Pichon, Olivier ^a   Briand, Annaig ^a   Poulain, Damien ^a   Sznajer, Yves ^b   David, Albert ^a   Le Caignec, Cédric ^a,c  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^c L INSTITUT DU THORAX   (France)

Author keywords

Deletion; Duplication; Insertion; Mental retardation; X linked intellectual disability; ZFPM2

Indexed keywords

FOLLITROPIN; MEMBRANE PROTEIN; TESTOSTERONE; UNCLASSIFIED DRUG; ZFPM2 PROTEIN;

ADULT; ARTICLE; AUTOSOMAL INSERTIONAL TRANSLOCATION; CASE REPORT; CHROMOSOME 8Q; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLITROPIN BLOOD LEVEL; GENE DELETION; GENE INSERTION; GENE TRANSLOCATION; GENETIC COUNSELING; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; MALE; METAPHASE; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; STUTTERING; TESTOSTERONE BLOOD LEVEL; X CHROMOSOME LINKAGE;

CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INHERITANCE PATTERNS; INTELLECTUAL DISABILITY; MALE; MUTAGENESIS, INSERTIONAL; TRANSLOCATION, GENETIC;

EID: 84871678719     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.10.006     Document Type: Article

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