Document Detail

MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype.
MedLine Citation:
PMID:  3055989     Owner:  NLM     Status:  MEDLINE    
We report on a 3-month-old girl with unusual facial appearance, short neck with low posterior hairline, wide chest, valvular pulmonic stenosis, abnormal fingernails, and diploid-tetraploid mosaicism (46,XX/92,XXXX in 7.2% of peripheral leucocytes and in 29% of skin fibroblasts). Comparison with 11 previously reported cases with mosaic or complete tetraploidy does not establish an easily recognizable syndrome. However, a malformation pattern is apparent when tetraploidy patients are compared with 14 cases of triploid mosaicism and 44 previously reported cases of nonmosaic triploidy. A history of sex hormone exposure was present in 5 of 11 pregnancies resulting in tetraploidy; this exposure may correlate with the occurrence of tetraploidy in polycystic ovary syndrome and in tumors of the female reproductive tract. The mechanism of dysmorphogenesis involved in polyploidy is considered, including hypotheses of altered nuclear/cytoplasmic ratio, of trophoblastic alteration, of delayed cell division, or of altered autosome/active X chromosome ratio.
G N Wilson; M J Vekemans; P Kaplan
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  30     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1988 Aug 
Date Detail:
Created Date:  1988-12-07     Completed Date:  1988-12-07     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  953-61     Citation Subset:  IM    
Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan.
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MeSH Terms
Abnormalities, Multiple / etiology,  genetics*
Mental Retardation / etiology,  genetics*

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