Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

Prenatal Diagnosis

Volumn 25, Issue 7, 2005, Pages 602-603

  Price, Natalia ^a   Bahra, Mandeep ^b   Griffin, David ^c   Hanna, Ghaly ^a   Stock, Anthony ^a  

^a MILTON KEYNES GENERAL HOSPITAL   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c WATFORD GENERAL HOSPITAL   (United Kingdom)

Author keywords

Cornelia de Lange; Facial abnormality; Forearm abnormality; Growth retardation; NIPBL gene; Prenatal diagnosis; Single digit; t(3; 5)(q21; p13); Ultrasound

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 3; CHROMOSOME 5; CHROMOSOME ANALYSIS; DE LANGE SYNDROME; FEMALE; FETUS; FETUS ECHOGRAPHY; GENETIC COUNSELING; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE 46,XX; LIMB MALFORMATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION;

ABORTION, INDUCED; ADULT; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 5; DE LANGE SYNDROME; DIAGNOSIS, DIFFERENTIAL; FEMALE; FETAL GROWTH RETARDATION; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC;

EID: 23244435098     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1210     Document Type: Article

References (4)

1. Gillis LA, McCallum J, Kaur M, et al. 2004. NIPBL mutation analysis in 120 individuals with Cornelia de Lange Syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75(4): 610-623.
2. Krantz ID, McCallum J, DeScipio C, et al. 2004. Cornelia de Lange Syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36(6): 631-635.
3. Opitz JM. 1985. The Brachmann-de Lange Syndrome. Am J Med Genet 22: 89-102.
4. Tonkin ET, Wang T, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange Syndrome. Nat Genet 36: 636-641.