A small deletion of 16q23.1→16q24.2 [del(16)(q23.1q24.2).ish del(16) (q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies

American Journal of Medical Genetics

Volumn 70, Issue 4, 1997, Pages 371-376

  Werner, Walter ^a,c   Kraft, Sabine ^a   Callen, David F ^b   Bartsch, Oliver ^a   Hinkel, Georg Klaus ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

16q deletion; Coloboma of iris; Del(16)(q23.1 q24.2); Mild developmental delay; Minor anomalies

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 16Q; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; GENE DELETION; GENE LOCATION; GENE REARRANGEMENT; HUMAN; INFANT; IRIS COLOBOMA; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SHORT STATURE;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; COLOBOMA; CRANIOFACIAL ABNORMALITIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; IRIS; KARYOTYPING; MALE;

EID: 0030900462     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970627)70:4<371::aid-ajmg8>3.0.co;2-w     Document Type: Article

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