Balci Sevim, Engiz Ozlem, Aktaş Dilek, Vargel Ibrahim, Beksaç M S, Mrasek Kristin, Vermeesch Joris, Liehr Thomas
Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.
Am J Med Genet A. 2006 Mar 15;140(6):628-32. doi: 10.1002/ajmg.a.31131.
We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(::p16.3 --> q34.3 approximately 35.1::) was found in all metaphases. Subtelomeric 4p region, subtelomeric 4q region, as well as, Wolf-Hirschhorn critical region were deleted in ring chromosome 4. Genomic microarray analysis was also performed to delineate the size of deletion. Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies. Both maternal and paternal chromosomal analyses were normal. We compare the phenotypic appearance of our patient with the previously reported 16 cases of ring chromosome 4 in the medical literature.
我们报告了一名16个月大的男性患者，其患有4号环状染色体且Wolf-Hirschhorn综合征（WHS）区域缺失，伴有多种先天性异常，包括单侧唇腭裂、虹膜缺损、小头畸形、中肠旋转不良、尿道下裂以及双尿道口。对该患者进行外周染色体分析显示为46,XY,r(4)(p16.3q35) 新发。还进行了多色荧光原位杂交（FISH）研究，根据多色带型（MCB）发现在所有中期相中均存在r(4)(::p16.3 --> q34.3约35.1::)。4号环状染色体中4p亚端粒区域、4q亚端粒区域以及Wolf-Hirschhorn关键区域均缺失。还进行了基因组微阵列分析以确定缺失的大小。头颅磁共振成像（MRI）显示胼胝体发育不全、髓鞘形成延迟以及额叶和枕叶萎缩。父母双方的染色体分析均正常。我们将我们患者的表型表现与医学文献中先前报道的16例4号环状染色体病例进行了比较。
