Sandal G, Ormeci A R, Oztas S
Süleyman Demirel University Medical School, Pediatrics Department, Isparta, Turkey.
Genet Couns. 2013;24(2):217-22.
The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. Herein we report cases of twins (karyotype 46, XY) carrying terminal deletion of the chromosome 4 (q31qter) segment resulting in craniofacial dysmorphism, skeletal anomalies, ocular findings and cardiac defect.
4q缺失综合征是一种罕见的染色体缺失综合征，具有广泛的临床表型。在此，我们报告了一对双胞胎（核型为46, XY）的病例，他们携带4号染色体（q31qter）末端片段的缺失，导致颅面畸形、骨骼异常、眼部病变和心脏缺陷。
