[Partial deletion of the short arm of chromosome 3. Report of a case (author's transl)].
A patient with partial deletion 3p is reported. Only one other patient has been previously reported in the literature. Features the two share include microcephaly, failure to thrive, ptosis, symophrys, a broad and flat nose, a prominent maxilla, an over developed chin, and an increased number of loops on the finger tips. These observations are compared in type and countertype with known observations of trisomy 3p and of 3q duplication/3p deletion.
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics; D014314:Trisomy
Délétion partielle du bras court du chromosome 3. A propos d'un cas.