Document Detail

Unexpected death of a 12 year old boy with monosomy 1p36.
MedLine Citation:
PMID:  15083695     Owner:  NLM     Status:  MEDLINE    
Monosomy 1p36 may result in a clinically recognizable chromosomal microdeletion syndrome. We report the unexpected death of a 12 year old boy with mildly dysmorphic facial features, short stature at 138 cm (3rd centile), moderate mental retardation and a history of seizures, obesity, transient muscle weakness of the right arm and leg and episodes of transient atonic hemiparesis of the right side of the body. Despite the relatively few congenital anomalies and normal karyotype, the 1p36 deletion was suspected on clinical grounds and was demonstrated by fluorescent in situ hybridisation (FISH). Two months after diagnosis and following a short history of a mild upper airway infection, high fever and severe diarrhea, the patient had a massive circulatory shock and asystolia, resulting in deep coma, brain edema, apallic syndrome and death. To our knowledge there has been no previous report of episodes of transient unilateral muscle weakness and atonic hemiparesis, circulatory shock and sudden death associated with monosomy 1p36.
L M Neumann; T Polster; T Spantzel; O Bartsch
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  15     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2004  
Date Detail:
Created Date:  2004-04-15     Completed Date:  2004-07-20     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  19-26     Citation Subset:  IM    
Institute of Human Genetics, Charité Campus Virchow-Klinikum, 13353 Berlin, Germany.
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MeSH Terms
Alopecia / complications,  diagnosis
Chromosomes, Human, Pair 1 / genetics*
Fatal Outcome
Gene Deletion
Mental Retardation / complications,  genetics
Monosomy / genetics*
Obesity / diet therapy

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

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