The first successful mapping of a mendelian disorder by chromosome rearrangements was that of the Duchenne muscular dystrophy locus to Xp21.1-5 Since then, chromosome aberrations which delete, truncate, or otherwise rearrange and mutate specific genes have not only helped in the mapping of other disease loci,6 but have turned out to be key elements for the rapid isolation of disease genes by positional cloning strategies.7 Accordingly, a listing of the clinical disorders in which associated chromosome rearrangements have been described forms a part of the Human Gene Mapping Workshops.6 Although the early success led to a proposal for systematic cytogenetic analysis of subjects with mendelian disorders,8 this has rarely been done. A common feeling is that, as mutations, these rearrangements are rare exceptions. The aim of the present review is to document that they may be rare, but are not exceptions, and to focus on factors which may influence their occurrence and facilitate their detection.

https://jmg.bmj.com/content/jmedgenet/30/9/713.full.pdf

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant malformation of the eyelids that may severely impair visual function. Chromosomal aberrations involving chromosomes 3q23, 3p25 and 7p34 have been reported in BPES but the disease gene has not been hitherto localized by linkage analysis. We have mapped a gene for BPES to chromosome 3q23 in a large French pedigree (Zmax = 4.62 at Theta = 0 for probe AFM 182yc5 at locus D3S1549). The best estimate for the location of the disease gene is at locus D3S1549, between the loci D3S1292 and D3S1555 (maximum lod score of 5.10).

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis-ptosis-epicanthus inversus syndrome types 1 and 2), or sporadically. Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is associated with female infertility. Mental subnormality may occur, especially in the sporadic cases. Chromosome analysis from a few patients suggests that the genetic defect causing the syndrome is localized to chromosome 3q22.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.

https://jmg.bmj.com/content/jmedgenet/31/8/647.full.pdf

Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.

Nilbert et al3 reported a uterine leiomyosarcoma with a t(8;13). In addition, several uterine leiomyomas with structural or numerical abnormalities of chromosome 8 were reported by Mark et a14 and Teyssier and Ferre.5 Especially interesting in relation to the case under discussion is the latter authors' report of trisomy 8 in another gastrointestinal smooth muscle tumour, an oesophageal leiomyoma. Thus, the abnormalities in chromosome 8 in smooth muscle tumours described so far involve both numerical and structural abnormalities and concern both benign and malignant tumours. We think that these data give a different perspectiVe to the discussion of the case reported by Lessick et al.'

https://jmg.bmj.com/content/jmedgenet/28/10/725.1.full.pdf

Further evidence for the location of the BPES gene at 3q2.

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Further evidence for the location of the BPES gene at 3q2.