ISSN:
1435-232X
Keywords:
interstitial deletion
;
11q
;
11q-
;
del(11)(q14q22)
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary A 12-month-old female infant with developmental delay, growth retardation, and dysmorphic features including dolichocephaly, telecanthus, ptosis, flat nasal bridge, anteverted nares, high-arched palate, carp-shaped mouth, micro-retrognathia, and low-set and posteriorly rotated ears was found to have an interstitial deletion of chromosome 11 involving bands q14–q22. Immunoblot analysis of her fibroblasts revealed a normal amount of mitochondrial acetoacetyl-coenzyme A thiolase, of which gene locus has been assigned to chromosome 11q22.3–q23.1. This result suggested that the region around the boundary of 11q22.3–q23.1 was intact in this patient.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01900717
Permalink