Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
نویسندگان
چکیده
KEY CLINICAL MEASSAGE Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.
منابع مشابه
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
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