Dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia
Dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia
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DOI：
10.1002/ajmg.a.31770
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发表时间：
2007-06-15
影响因子：
2
通讯作者：
Nonoyama, Shigeaki
中科院分区：
文献类型：
--
作者：
Tokutomi, Tomoharu;Hayashi, Shin;Nonoyama, Shigeaki
一个15岁的女孩有用力呼吸困难，肝局灶性结节增生，门静脉发育不全，门脉性肺动脉高压，智力低下和轻微的面部异常。细胞遗传学分析显示，8号染色体异常，8p22-pter重复，8q24.3-qter缺失，重复的8p片段附着在8q24-3带上。她的母亲有8号染色体的近中心倒位，inv(8)（p22q24.3）。因此，女孩异常的8号染色体是母体倒位染色体的重组：46，XX,rec(8)clup(8p)inv(8)(p22q24.3)mat。利用阵列CGH和区域FISH分析对重组染色体进行进一步表征，确定了15 Mb远端Sp重复和0.5 Mb 8q缺失。讨论了重组染色体与肝局灶性结节增生的可能相关性。(c) 2007 Wiley-Liss, Inc。
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)clup(8p)inv(8)(p22q24.3)mat. Further characterization of the recombinant chromosome, using array CGH and regional FISH analyses, defined 15 Mb distal Sp duplication and 0.5 Mb 8q deletion. Possible correlation of the recombinant chromosome and hepatic focal nodular hyperplasia in the patient is discussed. (c) 2007 Wiley-Liss, Inc.