A karyotype 46,XX dup(4) (p15 p16) has been seen in a girl with mental debility, hypotrophic height and weight, and a dysmorphic syndrome, the most salient symptoms of which are: microcephaly, bulging forehead, macrostomia, very hypoplasic mandible with a very obtuse postero inferior angle; cylindrical thorax, hypoplasic pelvis, 13 ribs and anomalies of the extremities. The chromosomes of the parents are normal.
|Translated title of the contribution||A new case of partial trisomy 4p|
|Number of pages||1|
|Journal||Journal de Genetique Humaine|
|Publication status||Published - 1975|
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