[Partial trisomy of the long arm of the chromosome no. 6 (author's transl)].
The clinical features of a new chromosomal syndrome are described. The patient, a 10(9)/12 years old girl, presents a marked psychomotor retardation with short stature, microcephaly, myopia, alterations in dermatoglyphics, and some other dysmorphic signs.
D002648:Child; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008831:Microcephaly / Q000235:genetics; D009216:Myopia / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics; D013577:Syndrome; D014314:Trisomy
Partielle Trisomie des langen Arms des Chromosoms Nr. 6.