Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. Issue 1 (January 1995)

• Record Type: Journal Article
• Authors: Warburg, M; Bugge, M; Brøndum-Nielsen, K
• Is Part Of: Journal of medical genetics. Volume 32:Issue 1(1995)
• Page Start: 19
• Page End: 24
• Publication Date: 1995-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.1.19
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Three unrelated, mentally retarded boys with typical blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) were found to have chromosomal aberrations. One of them had a del(3)(p25), another patient had a de novo translocation t(2; 3), which after high resolution banding combined with chromosome painting was interpreted to be unbalanced with a loss of band q23. The third patient had a del(7)(q34). The phenotypes of the two patients with chromosome 3 related syndromes were similar, but the third also had genital malformations resembling the Smith-Lemli-Opitz syndrome. This patient had a palatal ridge, and a single mesial maxillary tooth suggesting the holoprosencephaly sequence, but CT scans of the brain were normal.