Open AccessJournal Article
Familial de lange syndrome with chromosome abnormalities
TLDR
Karyotypic differences between carriers and their affected children present evidence of an excess of some chromosome A 3 material producing the clinical disorder.Abstract:
Familial de Lange syndrome is described in three siblings and a maternal first cousin. A new chromosomal aberration has been found in this family in all affected children and in 7 unaffected carriers. Karyotypic differences between carriers and their affected children present evidence of an excess of some chromosome A 3 material producing the clinical disorder.read more
Citations
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Journal ArticleDOI
de Lange syndrome: A clinical review of 310 individuals
TL;DR: A higher proportion of patients affected mildly with the syndrome than is commonly appreciated is demonstrated, which underscores the importance of early recognition and appropriate medical and developmental support.
Journal ArticleDOI
The dup(3q) syndrome: report of eight cases and review of the literature.
Peter Steinbach,William N. Adkins,H. Caspar,K. W. Dumars,J. Gebauer,Gilbert Ef,T. Grimm,M. Habedank,Ingo Hansmann,J. Herrmann,E. G. Kaveggia,U. Langenbeck,Lorraine F. Meisner,T. M. Najafzadeh,J. M. Opitz,Catherine G. Palmer,H. H. Peters,W. Scholz,A. S. Tavares,C. Wiedeking,John M. Opitz +20 more
TL;DR: A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, and congenital heart disease.
Journal ArticleDOI
The association of chromosome 3 duplication and the Correlia de Lange syndrome
TL;DR: Two unrelated children with features of the Cornelia de Lange syndrome had duplications corresponding to bands q25 leads to q29 of chromosome 3, which sometimes involve characteristic chromosomal changes but have normal chromosomes in other instances are discussed.
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Oral-facial-digital syndrome.
J. A. Dodge,D. C. Kernohan +1 more
TL;DR: Five patients with the OFD syndrome are reported, and comment on the clinical and genetic features of this condition are commented on.
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