Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)

American Journal of Medical Genetics

Volumn 134 A, Issue 3, 2005, Pages 254-258

  Schoumans, Jacqueline ^a   Sanner, Gunnar ^b   Nordenskjöld, Magnus ^a   Anderlid, Britt Marie ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b CENTRAL HOSPITAL   (Sweden)

Author keywords

12q; 17q; Autism; Deletion; Duplication; Mental retardation; Subtelomeric

Indexed keywords

ADULT; ARTICLE; AUTISM; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 17Q; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PEDIGREE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SPECTRAL KARYOTYPING;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 17; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MIDDLE AGED; PEDIGREE; TRANSLOCATION, GENETIC;

EID: 16344374135     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30611     Document Type: Article

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