对因家族性易位t(10;11)(q26;q23.3)导致的“纯合性”11q23.3 - qter三体或相互单体的同胞进行临床和分子评估。
Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).
作者信息
Chen Rongyu, Li Chuan, Xie Bobo, Wang Jin, Fan Xin, Luo Jingsi, Hu Xuyun, Chen Shaoke, Shen Yiping
机构信息
Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59, Xiangzhu Road, Nanning, China.
Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59, Xiangzhu Road, Nanning, China ; Department of Laboratory Medicine, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 USA ; Department of Pathology, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 USA.
出版信息
Mol Cytogenet. 2014 Dec 24;7(1):101. doi: 10.1186/s13039-014-0101-8. eCollection 2014.
11qter trisomy is rare, mostly occurs in combination with partial monosomy of a terminal segment of another chromosome due to unbalanced segregation of parental translocations. Pure 11qter trisomy is rarer, only five cases have so far been reported. Here we report a family with all four siblings affected with neurodevelopmental disorders and facial dysmorphism. Chromosomal microarray analysis (CMA) identified 11q23.3-qter (15.1 Mb) deletion in one and reciprocal duplication in the other three siblings. Both father and grandfather are balanced translocation (46, XY, t (10;11) (q26;q23)) carriers. The genetic material involved on chromosome 10 is very limited (270 kb). Thus, the pedigree presented rare cases with "pure" 11qter trisomy or reciprocal 11qter monosomy (Jacobsen syndrome), offering a unique opportunity to examine clinical presentations of multiple individuals with identical genomic imbalance. The proband with 11qter monosomy presented with many features of Jacobsen syndrome. The three 11qter trisomy carriers presented with shared craniofacial features including brachycephaly and short philtrum. They are also significant for the following neurodevelopmental and neuropsychiatric defects: intellectual disability, expressive language deficiency, autistic features, auditory hallucination, self-talking and pain insensitivity. To our knowledge, this is the smallest "pure" trisomy 11qter so far reported and this is the first report to describe the neuropsychiatric features of patients with 11qter trisomy. Our observation also revealed dissimilar features in our patients compared with those of previously published trisomy 11qter cases. The pedigree also revealed phenotypic heterogeneity among siblings with identical genomic imbalance.
11号染色体长臂末端三体罕见,多因亲代易位不平衡分离,与另一染色体末端片段部分单体联合出现。纯11号染色体长臂末端三体更罕见,迄今仅报道过5例。本文报告一个家庭,其4个兄弟姐妹均患有神经发育障碍和面部畸形。染色体微阵列分析(CMA)在其中1例中鉴定出11q23.3 - qter(15.1 Mb)缺失,在另外3例兄弟姐妹中鉴定出相互重复。父亲和祖父均为平衡易位(46, XY, t(10;11)(q26;q23))携带者。10号染色体上涉及的遗传物质非常有限(270 kb)。因此,该家系呈现了罕见的“纯”11号染色体长臂末端三体或相互11号染色体长臂末端单体(雅各布森综合征)病例,提供了一个独特机会来研究具有相同基因组失衡的多个个体的临床表现。11号染色体长臂末端单体先证者具有雅各布森综合征的许多特征。3例11号染色体长臂末端三体携带者具有共同的颅面特征,包括短头畸形和短人中。他们还存在以下显著的神经发育和神经精神缺陷:智力残疾、表达性语言缺陷、自闭症特征、幻听、自言自语和痛觉不敏感。据我们所知,这是迄今报道的最小的“纯”11号染色体长臂末端三体,这也是首次描述11号染色体长臂末端三体患者神经精神特征的报告。我们的观察还显示,与先前发表的11号染色体长臂末端三体病例相比,我们的患者具有不同特征。该家系还揭示了具有相同基因组失衡的兄弟姐妹之间的表型异质性。
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