Document Detail


Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
MedLine Citation:
PMID:  7815425     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
J Wolstenholme; J Brown; K G Masters; C Wright; C J English
Related Documents :
20503325 - Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian poly...
17351355 - Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with men...
16684695 - An investigation of sequence deletions of amelogenin (amely), a y-chromosome locus comm...
7104985 - Retinoblastoma and its association with a deletion in chromosome #13: a survey using hi...
9973945 - Bleomycin-induced chromosome aberrations in lymphocytes derived from patients with lame...
9429145 - Multiple congenital anomalies including the rieger eye malformation in a boy with inter...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  31     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1994 Aug 
Date Detail:
Created Date:  1995-02-09     Completed Date:  1995-02-09     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  647-8     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, University of Newcastle upon Tyne, UK.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / embryology,  genetics*
Abortion, Induced
Blepharophimosis / embryology,  genetics*
Blepharoptosis / embryology,  genetics*
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, Pair 3 / ultrastructure*
Female
Fetal Diseases / genetics*
Gestational Age
Hernia, Diaphragmatic / embryology,  genetics*
Humans
Male
Pregnancy
Sequence Deletion*
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.
Next Document:  X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic a...