一名患有肝局灶性结节性增生的女孩中的dup(8p)/del(8q)重组染色体

dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.

作者信息

Tokutomi Tomoharu, Hayashi Shin, Imai Kohsuke, Chida Ayako, Ishiwata Takahiro, Asano Yuh, Inazawa Johji, Nonoyama Shigeaki

机构信息

Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.

出版信息

Am J Med Genet A. 2007 Jun 15;143A(12):1334-7. doi: 10.1002/ajmg.a.31770.

DOI:10.1002/ajmg.a.31770

PMID:17506094

Abstract

A 15-year-old girl had exertion dyspnea, focal nodular hyperplasia of the liver, portal vein hypoplasia, portopulmonary hypertension, mental retardation, and minor facial abnormalities. Cytogenetic analysis demonstrated an abnormal chromosome 8 with 8p22-pter duplication and 8q24.3-qter deletion, with the duplicated 8p segment attached to band 8q24.3. Her mother had a pericentric inversion of chromosome 8, inv(8)(p22q24.3). Therefore, the girl's abnormal chromosome 8 was a recombinant of maternal inversion chromosome: 46,XX,rec(8)dup(8p)inv(8)(p22q24.3)mat. Further characterization of the recombinant chromosome, using array CGH and regional FISH analyses, defined 15 Mb distal 8p duplication and 0.5 Mb 8q deletion. Possible correlation of the recombinant chromosome and hepatic focal nodular hyperplasia in the patient is discussed.

摘要

一名15岁女孩出现劳力性呼吸困难、肝脏局灶性结节性增生、门静脉发育不全、门肺高压、智力发育迟缓以及轻微面部异常。细胞遗传学分析显示8号染色体异常，存在8p22 - pter重复及8q24.3 - qter缺失，重复的8p片段连接至8q24.3带。她的母亲有8号染色体臂间倒位，inv(8)(p22q24.3)。因此，女孩的异常8号染色体是母源倒位染色体的重组体：46,XX,rec(8)dup(8p)inv(8)(p22q24.3)mat。使用阵列比较基因组杂交（array CGH）和区域荧光原位杂交（FISH）分析对重组染色体进行进一步特征分析，确定了8p远端15 Mb重复和8q 0.5 Mb缺失。文中讨论了重组染色体与该患者肝脏局灶性结节性增生之间可能的相关性。