Novel interstitial 2.6Mb deletion on 9q21 associated with multiple congenital anomalies

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 237-242

  Pua, Heather H ^a   Krishnamurthi, Swetha ^a   Farrell, Jessica ^a   Margeta, Marta ^a   Ursell, Philip C ^a   Powers, Martin ^a   Slavotinek, Anne M ^a   Jeng, Linda J B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

9q21 deletion; Bicorunate uterus; Cleft palate; Comparative genomic hybridization; Craniofacial abnormalities; Heart septal defects, atrial; Hip dislocation; Muscle hypotonia

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; NATURAL KILLER CELL RECEPTOR NKG2D;

ARTICLE; CASE REPORT; CHROMOSOME 9Q; CHROMOSOME ANALYSIS; CLEFT PALATE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC STABILITY; HAPLOINSUFFICIENCY; HEART ATRIUM SEPTUM DEFECT; HIP DISLOCATION; HNRNPK GENE; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; KIF27 GENE; MUSCLE HYPOTONIA; NKG2D GENE; PNEUMONIA; PRIORITY JOURNAL; RECURRENT DISEASE; RMI1 GENE; UBQLN1 GENE; UTERUS BICORNIS; ABNORMALITIES, MULTIPLE; CHROMOSOME 9; CHROMOSOME DELETION; FACIES; FATALITY; GENE DELETION; GENETICS; PHENOTYPE;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FATAL OUTCOME; FEMALE; GENE DELETION; HUMANS; INFANT; PHENOTYPE;

EID: 84890774313     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36230     Document Type: Article

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