ISSN:
1432-1076
Keywords:
Terminal deletion 11q
;
Malformation-retardation-syndrome
;
Porphyrine metabolism
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A male child is described with short stature, mental retardation and unusual facial appearance. Cytogenetic analysis revealed a partial deletion of the long arm of chromosome 11: 46,XY,del (11)(qter→q23.3:). A short review of previously reported cases of del 11q is presented. A comparison of the main clinical characteristics and the extent of the 11q deletion is given.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00451964
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