Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]
1991; Wiley; Volume: 41; Issue: 1 Linguagem: Inglês
10.1002/ajmg.1320410105
ISSN1096-8628
AutoresLinda Surh, David H. Ledbetter, Frank Greenberg,
Tópico(s)Glycosylation and Glycoproteins Research
ResumoAbstract A 27‐month‐old boy with mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects was found to have an interstitial deletion of chromosome 18 involving band q12.1 or q12.3.
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