engleski

A case report of a very rare familial translocation of gonosome and autosome X.21 and literature review.

We present very rare, not yet reported, familial unbalanced translocation of the gonosome and autosome (X and 21) of patient with short stature, microcephaly, a coarse face, bluish sclera, antimongoloid slant palpebral fissures with long eye-lashes and accented eyebrows, very malformed ears with primitive shape of the ears and vera large earlobes and creases on both the front and back sides of the earlobe with other dismorphy of the face.

amilial translocation; gonosome and autosome X.21

nije evidentirano