Document Detail

A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review.
MedLine Citation:
PMID:  11074119     Owner:  NLM     Status:  MEDLINE    
We describe a boy with a deletion of the short arm of chromosome 3; (46, XY, del (3) (p25-pter) who presented several minor craniofacial anomalies at birth. Only 34 cases of small distal 3p deletion have been described in the literature, seven of them showed hearing loss and four of the 34 cases had brain anomalies. But in none of the 34 cases the middle and internal ear were radiographically examined. Despite the severe hearing loss detected by auditory brainstem evoked responses (ABR), computerized tomographic scanning (CT-scan) of the ear showed a normal anatomy in this patient. The head CT-scan and magnetic resonance imaging (MRI) disclosed a hypoplastic corpus callosum and an enlargement of the lateral ventricles.
S Kariya; K Aoji; H Akagi; K Fukushima; E Chikumoto; T Ogawa; M Karaki; K Nishizaki
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  56     ISSN:  0165-5876     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  2000 Nov 
Date Detail:
Created Date:  2001-01-11     Completed Date:  2001-01-11     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  IRELAND    
Other Details:
Languages:  eng     Pagination:  71-8     Citation Subset:  IM    
Department of Otorhinolaryngology, Kagawa Prefectural Central Hospital, 5-4-16 Ban-cho, Takamatsu-shi, 760-8557, Kagawa, Japan.
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MeSH Terms
Brain / abnormalities
Chromosome Deletion*
Chromosomes, Human, Pair 3 / genetics*
Craniofacial Abnormalities / diagnosis*,  genetics*
Fatal Outcome
Infant, Newborn
Magnetic Resonance Imaging
Tomography, X-Ray Computed
Translocation, Genetic

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

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