Inverted Duplication of 1q32.1 to 1q44 characterized by array CGH and review of Distal 1q partial Trisomy

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 793-797

  Balasubramanian, Meena ^a   Barber, John C K ^a,b,c   Collinson, Morag N ^b   Huang, Shuwen ^b   Maloney, Viv K ^b   Bunyan, Dave ^b   Foulds, Nicki ^a,c  

^a PRINCESS ANNE HOSPITAL   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AIRWAY OBSTRUCTION; ANAMNESIS; APNEA ATTACK; BRONCHOSCOPY; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISTAL TRISOMY 1Q SYNDROME; DNA MICROARRAY; FACE DYSMORPHIA; FEMALE; FOREHEAD; GASTROESOPHAGEAL REFLUX; HAIR COLOR; HEART ATRIUM SEPTUM DEFECT; HOME OXYGEN THERAPY; HUMAN; HYPOGLYCEMIA; INFANT; JAUNDICE; LARYNGOMALACIA; LETTER; MALFORMATION SYNDROME; MOUTH MALFORMATION; MYOPIA; NEBULIZER; PALPEBRAL FISSURE ANOMALY; PARTIAL TRISOMY; PLAGIOCEPHALY; PNEUMONIA; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; TOE MALFORMATION;

ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INVERSION, CHROMOSOME; PHENOTYPE; SYNDROME;

EID: 63749105467     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32463     Document Type: Letter

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