Synonyms 17p duplication syndrome, 17p+ syndrome, 17号染色体,17p三体 + [12] |
Introduction A rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 with characteristics of pre and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. It has been described in fewer than 15 patients. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. Trisomy 17p has been reported to be pure, as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. |
Target |
Mechanism CD20 inhibitors [+3] |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication |
Drug Highest PhaseApproved |
First Approval Ctry. / Loc. US |
First Approval Date26 Oct 2009 |
Start Date01 Oct 2018 |
Sponsor / Collaborator- |
Start Date01 Dec 2011 |
Sponsor / Collaborator |
Start Date09 Nov 2010 |
Sponsor / Collaborator |