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

• Published in: Journal of medical genetics Vol. 31; no. 8; pp. 647 - 648
• Main Authors: Wolstenholme, J, Brown, J, Masters, K G, Wright, C, English, C J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-08-1994; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - embryology; Abnormalities, Multiple - genetics; Abortion, Induced; Biological and medical sciences; blepharophimosis; Blepharophimosis - embryology; Blepharophimosis - genetics; Blepharoptosis - embryology; Blepharoptosis - genetics; chromosome 3; Chromosome aberrations; Chromosome Aberrations - genetics; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, Pair 3 - ultrastructure; congenital diaphragmatic defects; deletion; diaphragmatic hernia; Female; Fetal Diseases - genetics; Gestational Age; Hernia, Diaphragmatic - embryology; Hernia, Diaphragmatic - genetics; Humans; Male; man; Medical genetics; Medical sciences; Pregnancy; Sequence Deletion; Chromosomal aberration; Genetic mapping; Human; Respiratory disease; Blepharophimosis; Abnormal A3 chromosome; Case study; Hernia; Eye disease; Malformation; Eyelid disease; Deletion; Abnormal chromosome; Fetus; Diaphragm
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.31.8.647

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.