Urioste M, Arroyo I, Villa A, Lorda-Sánchez I, Barrio R, López-Cuesta M J, Rueda J
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Am J Med Genet. 1995 Oct 23;59(1):114-22. doi: 10.1002/ajmg.1320590123.
We describe a patient who had craniofacial and genitourinary abnormalities, swallowing difficulties, esophageal dysfunction, hypotonia and moderate developmental delay, and who also had a terminal deletion of chromosome 13 (q32.3qter). This MCA pattern strongly suggests the Opitz GBBB syndrome. The deletion of chromosome 13 was interpreted as terminal with a breakpoint at 12q32.3. Coagulation factors VII and X located in 13q34, were markedly reduced in the propositus. Although there is some clinical overlap between patients with terminal deletion of 13q and those with the Opitz GBBB syndrome, our patient manifests a whole pattern of abnormalities characteristics of the latter disorder. The concurrence of the Opitz GBBB syndrome and the chromosome abnormality in our patient could be due to chance or, be because a gene for the Opitz GBBB syndrome is located at the tip of 13q.
我们描述了一名患有颅面和泌尿生殖系统异常、吞咽困难、食管功能障碍、肌张力减退和中度发育迟缓的患者，该患者还存在13号染色体（q32.3qter）末端缺失。这种MCA模式强烈提示为Opitz GBBB综合征。13号染色体的缺失被解释为末端缺失，断点位于12q32.3。位于13q34的凝血因子VII和X在该先证者中明显降低。虽然13q末端缺失患者与Opitz GBBB综合征患者之间存在一些临床重叠，但我们的患者表现出了后者疾病的一整套异常特征。我们患者中Opitz GBBB综合征与染色体异常的并发可能是由于偶然因素，或者是因为Opitz GBBB综合征的一个基因位于13q末端。
