Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21

Clinical Dysmorphology

Volumn 14, Issue 4, 2005, Pages 183-187

  Crombez, Eric A ^a   Dipple, Katrina M ^a   Schimmenti, Lisa A ^b,c   Rao, Nagesh ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Down syndrome; Down syndrome critical region; Dysmorphology; Ring chromosome; Ring chromosome 21

Indexed keywords

TRANSCRIPTION FACTOR RUNX1;

ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 21; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DISEASE ASSOCIATION; DOWN SYNDROME; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; LABORATORY TEST; NEWBORN; PHENOTYPE; PHYSICAL EXAMINATION; PREDICTION; PRIORITY JOURNAL; RING CHROMOSOME; TELOMERE;

CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FACE; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; PHENOTYPE; RING CHROMOSOMES;

EID: 25844508345     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200510000-00003     Document Type: Article

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