An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: An intragenic deletion predicting loss of the N-terminal region of NIPBL

Clinical Dysmorphology

Volumn 21, Issue 1, 2012, Pages 22-23

  Murray, Jennie E ^a   Walayat, Muhammed ^b   Gillett, Peter ^b   Sharkey, Freddie H ^a   Rajan, Diana ^c   Carter, Nigel P ^c   Fitzpatrick, David R ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD GROWTH; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DE LANGE SYNDROME; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; FACIES; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GENE; GENE DELETION; GENETIC ASSOCIATION; HEARING LOSS; HEART MURMUR; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MALE; MICROCEPHALY; NIPBL GENE; PRIORITY JOURNAL; SHORT SURVEY; STOMACH FUNDOPLICATION;

CHILD, PRESCHOOL; DE LANGE SYNDROME; DNA MUTATIONAL ANALYSIS; FACIES; HUMANS; MALE; MICROCEPHALY; MUTATION; PROTEINS; SEQUENCE DELETION;

EID: 83255185100     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32834c4afc     Document Type: Short Survey

References (5)

1. Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC (2007). Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet 15:505-508. (Pubitemid 46487708)
2. Dorsett D, Krantz ID (2009). On the molecular etiology of Cornelia de Lange syndrome. Ann NY Acad Sci 1151:22-37.
3. Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, et al. (2007). Clinical score of 62 Italian patients with Cornelia de Lange Syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 72:8-108.
4. Selicorni A, Colli AM, Passarini A, Milani D, Cereda A, Cerutti M, et al. (2009). Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet 149A:1268-1272.
5. Strachan T (2005). Cornelia de Lange syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev 15:258-264. (Pubitemid 40726048)