Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency

• Ngā kaituhi matua: Chih-Ping Chen (Author), Chen-Ju Lin (Author), Yen-Ni Chen (Author), Schu-Rern Chern (Author), Shin-Wen Chen (Author), Shih-Ting Lai (Author), Peih-Shan Wu (Author), Li-Feng Chen (Author), Wayseen Wang (Author)
• Hōputu: Pukapuka
• I whakaputaina: Elsevier, 2017-06-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Objective: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of 2q (2q31.1-q32.1) and discuss the genotype-phenotype correlation. Case report: A 34-year-old, primigravid woman was referred to the hospital at 20 weeks of gestation for genetic coun...