Treskov Inna, Al-Hosni Mohamad, Havranek Thomas, Batanian Jacqueline
Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO 63104, USA.
J Pediatr Hematol Oncol. 2013 Apr;35(3):e94-9. doi: 10.1097/MPH.0b013e31827e5d89.
Deletion of 1q43-44 has been reported in >50 cases. Phenotype-genotype correlation of this deletion has recently been described based on 20 pure cases. This led to the definition of critical regions and candidate genes for microcephaly, corpus callosum abnormalities, and seizure disorders. Variable penetrance and expressivity are associated with 1q43-44 microdeletion syndrome, explaining the lack of correlation in rare cases. Despite variation in size of the deletion, most cases are characterized by typical dysmorphic features, but none have demonstrated neonatal pancytopenia. We report on a newborn with partial monosomy 1q43-44 and partial trisomy 10p15.1→10pter born with dysmorphic features and neonatal pancytopenia. Array-CGH analysis characterizes the deletion and the duplication as terminal with estimated sizes of 8 to 9 and 5 to 6 Mb, respectively. Conventional cytogenetic analysis showed the 10p duplication as unbalanced and translocated onto 1q. The deletion in the 1q43-44 region is the largest among the 20 cases reported most recently. The 10p partnership with the derivative 1q43-44 region is unique. We discuss the association of neonatal pancytopenia with 1q deletion and 10p duplication, in light of a recent published case of acute lymphoblastic leukemia in a constitutional case of 1q deletion and 1p duplication.
超过50例病例报告了1q43 - 44缺失。最近基于20例纯合病例描述了该缺失的表型 - 基因型相关性。这导致了小头畸形、胼胝体异常和癫痫障碍关键区域及候选基因的定义。可变的外显率和表现度与1q43 - 44微缺失综合征相关，这解释了罕见病例中缺乏相关性的原因。尽管缺失大小存在差异，但大多数病例具有典型的畸形特征，但均未出现新生儿全血细胞减少症。我们报告了一名患有1q43 - 44部分单体性和10p15.1→10pter部分三体性的新生儿，出生时具有畸形特征和新生儿全血细胞减少症。阵列比较基因组杂交（Array - CGH）分析将缺失和重复特征化为末端型，估计大小分别为8至9 Mb和5至6 Mb。传统细胞遗传学分析显示10p重复为不平衡状态并易位到1q上。1q43 - 44区域的缺失是最近报道的20例病例中最大的。10p与衍生的1q43 - 44区域的组合是独特的。鉴于最近发表的一例1q缺失和1p重复的先天性病例发生急性淋巴细胞白血病，我们讨论了新生儿全血细胞减少症与1q缺失和10p重复的关联。
