Home LiteratureArticle Details
PMID: 11754058 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

American journal of medical genetics ·Vol. 104 ·No. 4 ·2001-12-15 ·Pages 267-76

Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID

Abstract

The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement. The vast majority of cases (99%) are sporadic, with rare familial occurrences having been reported. Most individuals with CdLS do not reproduce as a result of the severity of the disorder. Maternal transmission has been well documented, as have several cases of multiple-affected children being born to apparently unaffected parents. Paternal transmission has rarely been reported. A case is reported here of a father with classic features of CdLS with a similarly affected daughter. A review of the reported familial cases of CdLS is summarized.

MeSH Terms
Adult Child, Preschool De Lange Syndrome/genetics,pathology Family Health Female Genes, Dominant/genetics Humans Male Pedigree
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Russell K L
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA.
Ming J E
Patel K
Jukofsky L
Magnusson M
Krantz I D
References (39)
39 references, click to expand
  1. Cornelia de Lange syndrome in several members of the same family.
    J Med Genet. 1985 Aug;22(4):296-300 PMID: 4045958
  2. Cornelia de Lange syndrome in a mother and daughter.
    Clin Genet. 1985 Aug;28(2):157-61 PMID: 4042398
  3. On the variability of the Brachmann-de Lange syndrome in seven patients.
    Am J Med Genet. 1993 Nov 15;47(7):983-91 PMID: 8291541
  4. de Lange syndrome: a clinical review of 310 individuals.
    Am J Med Genet. 1993 Nov 15;47(7):940-6 PMID: 8291537
  5. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.
    Am J Med Genet. 1993 Nov 15;47(7):947-58 PMID: 8291538
  6. Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.
    Am J Med Genet. 1993 Sep 1;47(3):383-6 PMID: 8135286
  7. Brachmann-de Lange syndrome. 1994 update.
    Arch Pediatr Adolesc Med. 1994 Jul;148(7):749-55 PMID: 8019632
  8. Male-to-male transmission of mild Brachmann-de Lange syndrome.
    Am J Med Genet. 1994 Sep 1;52(3):331-3 PMID: 7528973
  9. Brachmann-de Lange syndrome. Report of two cases in a sibship.
    Am J Dis Child. 1973 May;125(5):717-8 PMID: 4699505
  10. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.
    J Med Genet. 1997 Aug;34(8):645-50 PMID: 9279756
  11. Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals.
    Am J Med Genet. 1993 Nov 15;47(7):969-76 PMID: 7507295
  12. BRACHMANN/DE LANGE SYNDROME.
    Lancet. 1964 Nov 7;2(7367):1019 PMID: 14201663
  13. A further report of Brachmann-de Lange syndrome in two sibs with normal parents.
    Clin Genet. 1995 Jun;47(6):324-7 PMID: 7554368
  14. The Brachmann-de Lange syndrome.
    Am J Med Genet. 1985 Sep;22(1):89-102 PMID: 3901753
  15. Variability of the Brachmann-de Lange syndrome.
    Am J Med Genet. 1993 Nov 15;47(7):977-82 PMID: 8291540
  16. Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature.
    Am J Med Genet. 1993 Nov 15;47(7):1064-7 PMID: 8291524
  17. 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 Jun 15;101(2):120-9 PMID: 11391654
  18. Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome.
    Am J Med Genet. 1994 Sep 1;52(3):363 PMID: 7810572
  19. Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome.
    Am J Med Genet. 1981;10(2):179-86 PMID: 7315874
  20. Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
    J Med Genet. 1995 Oct;32(10):837-8 PMID: 8558571
  21. Mild Brachmann-de Lange syndrome: changes of phenotype with age.
    Am J Med Genet. 1989 Jan;32(1):90-2 PMID: 2705489
  22. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
    J Med Genet. 1991 Sep;28(9):639-40 PMID: 1956066
  23. Duplication 3q syndrome: molecular delineation of the critical region.
    Am J Med Genet. 1995 Jan 2;55(1):33-7 PMID: 7702094
  24. Definition and diagnosis of the Brachmann-De Lange syndrome.
    Am J Med Genet. 1983 Nov;16(3):301-12 PMID: 6650570
  25. Variability of the de Lange syndrome: report of 3 cases and genetic analysis of 54 families.
    J Pediatr. 1969 Nov;75(5):853-8 PMID: 5347434
  26. Familial de Lange syndrome. Report of three cases in a sibship.
    Clin Genet. 1971;2(3):170-6 PMID: 5124937
  27. Autosomal dominant inheritance of Brachmann-de Lange syndrome.
    Am J Med Genet. 1996 Dec 30;66(4):445-8 PMID: 8989465
  28. Familial occurrence of Brachmann-de Lange syndrome.
    Am J Med Genet. 1986 Sep;25(1):163-5 PMID: 3799716
  29. No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome.
    Am J Med Genet. 1994 Jan 1;49(1):133-5 PMID: 8172242
  30. Familial occurrence of Cornelia de Lange's syndrome.
    Acta Paediatr Scand. 1974 Mar;63(2):225-31 PMID: 4820586
  31. THE CORNELIA DE LANGE SYNDROME.
    J Pediatr. 1963 Nov;63:1000-20 PMID: 14071035
  32. The Brachmann-de Lange syndrome in two siblings of normal parents.
    Clin Genet. 1987 Jun;31(6):413-5 PMID: 3621646
  33. Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype.
    Am J Med Genet. 1996 Oct 2;65(1):82-8 PMID: 8914746
  34. Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance.
    Am J Med Genet. 1985 Sep;22(1):109-15 PMID: 4050846
  35. Brachmann-de Lange syndrome in sibs.
    J Med Genet. 1987 Oct;24(10):627-9 PMID: 3681909
  36. The hand profile on de Lange syndrome: diagnostic criteria.
    Am J Med Genet. 1979;3(4):317-23 PMID: 474631
  37. Two cases of De Lange's syndrome (typus degenerativus amstelodamensis).
    J Ment Defic Res. 1968 Jun;12 (2):128-37 PMID: 5663939
  38. Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission.
    Am J Med Genet. 1996 Dec 30;66(4):449-52 PMID: 8989466
  39. Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?
    Am J Med Genet. 1992 Feb 1;42(3):381-6 PMID: 1536185
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
DOI
10.1002/ajmg.10066
Published
2001-12-15
Pages
267-76
Language
English
Region
United States
NLM ID
7708900
PMCID
PMC4894663
Subset
IM
Grants
NICHD NIH HHS · R01 HD039323 · United States
NIDDK NIH HHS · 5K08 DK 02541-02 · United States
Corrections
CommentIn
PMID: 12655502
External Links
PubMed source DOI: 10.1002/ajmg.10066 PMC Full Text
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2