A CASE OF DUP(3q) SYNDROME

作者：Koc A^*; Ekmekci A Yilmaz; Ozer O

来源：Genetic Counseling, 2013, 24(4): 381-385.

• Dup(3q) syndrome
• Blepharophimosis
• Ptosis
• Epicanthus inversus (BPES)
• Down syndrome critical region (DSCR)

A case of dup(3q) syndrome: Duplication of 3q is an extremely rare disorder characterized by "intellectual disability, deficiency of growth, broad nasal root and hypertrichosis". Although it is generally accepted that the duplication of the 3q25-qter region corresponds with a characteristic face, there is a debate about the critical region. In this report, we present a case with dup(3q) syndrome with 46,XY,der(7)ins(7;3)(p13; q22.1q26.31) karyotype and discuss the clinical findings.

• 出版日期2013