Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome

American Journal of Medical Genetics

Volumn 71, Issue 4, 1997, Pages 430-433

  McPherson, Elizabeth W ^a,b   Laneri, Giovanni ^c   Clemens, Michele M ^a,b   Kochmar, Sally J ^a,b   Surti, Urvashi ^a,b  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c WESTERN PENNSYLVANIA HOSPITAL   (United States)

Author keywords

Balanced translocation; Chromosome 1; Chromosome 7; Coffin Siris

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 1; CHROMOSOME 7; CLINICAL FEATURE; GENE TRANSLOCATION; HIRSUTISM; HUMAN; KARYOTYPE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; SCALP HAIR; SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 7; FACE; HUMANS; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; SYNDROME; TRANSLOCATION, GENETIC;

EID: 0030768914     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970905)71:4<430::AID-AJMG11>3.0.CO;2-H     Document Type: Article

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