Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)

American Journal of Medical Genetics, Part A

Volumn 146, Issue 21, 2008, Pages 2777-2784

  Gajecka, Marzena ^a   Saadeh, Reem ^b   Mackay, Katherine L ^a   Glotzbach, Caron D ^a   Spodar, Krystyna ^c   Chitayat, David ^d   Shaffer, Lisa G ^a,e  

^a WASHINGTON STATE UNIVERSITY   (United States)

^b JOHNS HOPKINS HOSPITAL   (United States)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d MOUNT SINAI HOSPITAL   (Canada)

^e Signature Genomic Laboratories LLC   (United States)

Author keywords

1p36 deletion; 22q13 duplication; PER3; Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1P; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CRYPTORCHISM; CYTOGENETICS; DEVELOPMENTAL DISORDER; FEEDING DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; HEARING DISORDER; HUMAN; HUMAN CELL; KARYOTYPE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROGNATHIA; MONOSOMY; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SPEECH DISORDER; STRABISMUS; TRISOMY;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISABILITIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; NUCLEAR PROTEINS; PHENOTYPE; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 55849114081     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32427     Document Type: Article

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