Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
case_report · Level V
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- Record sourced from PubMed, PMID 7815425.
- Also identified by PMC identifier 1050030.
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Abstract
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.
Medical subject headings
- Abnormalities, Multiple
- Blepharophimosis
- Blepharoptosis
- Chromosome Aberrations
- Chromosomes, Human, Pair 3
- Fetal Diseases
- Hernia, Diaphragmatic
- Sequence Deletion