A de novo t (X;8)(p11.2; q24.3) demonstrating Cornelia de Lange Syndrome phenotype

Genetic Counseling

Volumn 16, Issue 1, 2005, Pages 27-30

  Egemen, A ^a   Ulger, Zulal ^a   Ozkinay, F ^a   Gulen, F ^a   Cogulu, O ^a  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

Cornelia de Lange syndrome; t (X; 8); X autosomal translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION 8; CHROMOSOME TRANSLOCATION X; CLINICAL FEATURE; DE LANGE SYNDROME; DISEASE ASSOCIATION; FEMALE; GROWTH RETARDATION; HUMAN; INFANT; MENTAL DEFICIENCY; PHENOTYPE; PHYSICAL EXAMINATION; RARE DISEASE; RECURRENT INFECTION;

CHROMOSOMES, HUMAN, PAIR 8; CHROMOSOMES, HUMAN, X; DE LANGE SYNDROME; FEMALE; HUMANS; INFANT; KARYOTYPING; TRANSLOCATION, GENETIC;

EID: 16444363209     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. FALEK A., SCHMIDT R., JERVIS G.A.: Familial de Lange syndrome with chromosome abnormalities. Pediatrics. 1966, 37, 92-101.
2. HAWLEY P.P., JACKSON L.G., KURNIT D.M.: Sixty-four patients with Brachmann-de Lange syndrome: A survey. Am. J. Med. Genet., 1985, 20, 453-459.
3. IRELAND M., DONNAI D., BURN J.: Brachmann-de Lange syndrome: delineation of the clinical phenotype. Am. J. Med. Genet., 1993, 47, 959-964.
4. IRELAND M., EANGLISH C., CROSS I., HOULSBY W.T., BURN J.: A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. J. Med. Genet., 1991, 28, 639-640.
5. JACKSON L., KLINE A.D., BARR M.A., KOCH S.: De Lange syndrome: A clinical review of 310 individuals. Am. J. Med. Genet., 1993, 47, 940-946.
6. KRANTZ I.D., TONKIN E., SMITH M., DEVOTO M., BOTTANI A., SIMPSON C., HOFREITERM., ABRAHAM V., JUKOFSKY L., CONNTI B.P., STRACHANT., JACKSON L.: Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am. J. Med. Genet., 2001, 101, 120-129.
7. LAKSHMINARAYANA P., NALLASIVAM P.: Cornelia de Lange syndrome with ring chromosome 3. J. Med. Genet., 1990, 27, 405-406.
8. LOPEZ-RAGEL E., DILL F. J., HRYNCHAK M.A., VAN ALLEN M.I.: Partial duplication of 3q (q25.1-q26.1) without the Brachmann-de Lange phenotype. Am. J. Med. Genet., 1993, 347, 1068-1071.
9. MANDEL J.L., MONACO A.P., NELSON D.L., SCHLESSINGER D., WILLARD H.F.: Genome analysis and human X chromosome. Science. 1992, 258, 103-109.