A chromosomal complement of 46,XX,dup (4p) (p14→p16) was demonstrated in an infant girl, affected by mental and growth retardation, and by peculiar clinical findings such as: microcephaly, prominent forehead, macrostomia, hypoplasia of the mandible, whose posterior inferior angle was obtuse, cylindriform thorax, hypoplasic pelvis, a 13th rib and abnormalities of the limb extremities. The chromosomal complement of both parents was normal. This syndrome, representing probably the first case report of trisomy 4p without translocation, is considered in comparison with the previous reports of trisomy 4p.
|Translated title of the contribution||A recent case of partial trisomy 4p|
|Number of pages||10|
|Journal||Journal de Genetique Humaine|
|Publication status||Published - 1975|
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