ISSN:
1432-1076
Keywords:
Embryology
;
Heart malformation
;
Holt Oram syndrome
;
Phenocopy
;
Thalidomide syndrome
;
Upper limb defect
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract The reproductive history of a woman diagnosed as having a thalidomide syndrome clearly shows that she is affected by the Holt Oram syndrome (autosomal dominant inheritance). The problem of considering a phenocopy in genetic counselling is discussed. A study of the family illustrates the wide range of clinical manifestations of the Holt Oram syndrome. Embryological considerations are given.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442335
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