小头畸形
环状染色体
比较基因组杂交
荧光原位杂交
生物
胼胝体
亚端粒
解剖
核型
常染色体
染色体
尿道下裂
G带
疣
遗传学
基因
作者
Sevim Balcı,Özlem Engiz,Dilek Aktaş,İbrahim Vargel,Mehmet Sinan Beksaç,Kristin Mrasek,Joris Vermeesch,Thomas Liehr
摘要
Abstract 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 ∼ 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. © 2006 Wiley‐Liss, Inc.
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