Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: Further delineation of partial trisomy 1q syndrome

American Journal of Medical Genetics

Volumn 104, Issue 4, 2001, Pages 312-318

  Emberger, Werner ^a   Petek, E ^a   Kroisel, P M ^a   Zierler, H ^a   Wagner, K ^a  

^a UNIVERSITY OF GRAZ   (Austria)

Author keywords

Chromosome 1; Cridu chat overlap; Partial trisomy 1q; Phenotype genotype correlation; Trisomy 1q; Unbalanced translocation

Indexed keywords

ARTICLE; CASE REPORT; CAT CRY SYNDROME; CHROMOSOME 1Q; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CYTOGENETICS; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; NEWBORN; PARTIAL MONOSOMY; PARTIAL TRISOMY; PARTIAL TRISOMY 1Q; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SHORT STATURE;

CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 8; CYTOGENETIC ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; PHENOTYPE; SYNDROME; TRANSLOCATION, GENETIC; TRISOMY;

PRUNUS DULCIS;

EID: 0035893036     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10096     Document Type: Article

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