Document Detail

The problem of trisomy 22. A case report and a discussion of the variant forms.
MedLine Citation:
PMID:  819199     Owner:  NLM     Status:  MEDLINE    
A case of trisomy 22 with partial long arm deletion (47, +22 q-) studied by G-banding is presented. The patient, a five-month-old male, showed failure to thrive, delayed psychomotor development, large, low-set ears, mild micrognathia, atrial septal defect, and marked muscular hypotonia. The father's karyotype was normal. The mother's karyotype was 46 XX, but one of the no22 chromosomes showed a deletion of the long arm as seen in the proband's karyotype. A comparison with previously reported cases in the literature indicates a great variability of clinical features of trisomy 22: "classical form," cat eye syndrome, and abortive cases (as this reported case).
H Zellweger; V Ionasescu; J Simpson; L Burmeister
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Clinical pediatrics     Volume:  15     ISSN:  0009-9228     ISO Abbreviation:  Clin Pediatr (Phila)     Publication Date:  1976 Jul 
Date Detail:
Created Date:  1976-09-01     Completed Date:  1976-09-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372606     Medline TA:  Clin Pediatr (Phila)     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  601-6, 617-8     Citation Subset:  AIM; IM    
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MeSH Terms
Abnormalities, Multiple
Chromosomes, Human, 21-22 and Y*
Diagnosis, Differential
Eye Abnormalities
Heart Defects, Congenital / complications*
Mental Retardation / complications*

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