Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25→q27) secondary to a balanced insertion in his normal father: Evidence for haplotype insufficiency causing the Rieger malformation

Journal of Medical Genetics

Volumn 34, Issue 12, 1997, Pages 1012-1014

  Schinzel, Albert ^a   Brecevic, Lucrecija ^a   Dutly, Fabrizio ^a   Baumer, Alessandra ^a   Binkert, Franz ^a   Largo, Remo H ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Interstitial deletion (4) (q25 q27); Rieger eye anomaly

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4Q; CHROMOSOME 6; CHROMOSOME DELETION 4; CHROMOSOME INSERTION; CONGENITAL MALFORMATION; FACE MALFORMATION; GENITAL MALFORMATION; HAPLOTYPE; HUMAN; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; RIEGER SYNDROME; SCHOOL CHILD; VISUAL IMPAIRMENT;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 6; DNA, SATELLITE; EYE ABNORMALITIES; FEMALE; GENE DELETION; GENITALIA, MALE; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; PEDIGREE; SYNDROME;

EID: 0030781066     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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