Zneimer S M, Cotter P D, Stewart S D
Department of Cytogenetics, Quest Diagnostics, Van Nuys, CA 91405, USA.
Clin Genet. 2000 Aug;58(2):129-33. doi: 10.1034/j.1399-0004.2000.580207.x.
We report a rare case of a de novo end to end fusion of chromosomes 7 and 22 in conjunction with an interstitial deletion of chromosome 7p11.2p15.1 in a newborn with congenital anomalies. The proband presented for chromosome analysis with bilateral cataracts, dysmorphic facies and distal limb abnormalities. Chromosome analysis showed a 45,XY,der(22)psu dic(22;7)(p13;p22.3)del(7)(p11.2p15.1) karyotype. This short arm to short arm fusion of chromosomes 7 and 22 resulted in a pseudodicentric chromosome. The interstitial deletion in the short arm of chromosome 7 was likely a result of breakage and reunion related to instability of the dicentric chromosome. Loss of genetic material in this region of chromosome 7p has been implicated in the pathophysiology of craniosynostosis and cephalopolysyndactyly syndromes.
我们报告了一例罕见的新生儿病例，该新生儿患有先天性异常，其7号和22号染色体发生了从头端到端融合，并伴有7号染色体p11.2p15.1间质性缺失。先证者因双侧白内障、面部畸形和远端肢体异常前来进行染色体分析。染色体分析显示核型为45,XY,der(22)psu dic(22;7)(p13;p22.3)del(7)(p11.2p15.1)。7号和22号染色体的短臂到短臂融合产生了一条假双着丝粒染色体。7号染色体短臂的间质性缺失可能是由于双着丝粒染色体不稳定导致的断裂和重连所致。7号染色体p区这一区域的遗传物质丢失与颅缝早闭和头颅多指（趾）综合征的病理生理学有关。
