AN INFANT WITH DELETION OF THE DISTAL LONG ARM OF CHROMOSOME 15 (Q26.1-]QTER) AND LOSS OF INSULIN-LIKE GROWTH FACTOR-I RECEPTOR GENE
AN INFANT WITH DELETION OF THE DISTAL LONG ARM OF CHROMOSOME 15 (Q26.1-]QTER) AND LOSS OF INSULIN-LIKE GROWTH FACTOR-I RECEPTOR GENE
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DOI：
10.1002/ajmg.1320380117
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发表时间：
1991-01-01
期刊：
影响因子：
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通讯作者：
BUTLER, MG
中科院分区：
文献类型：
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作者：
ROBACK, EW;BARAKAT, AJ;BUTLER, MG
我们报告了一个以前未描述的15号染色体缺失（q26.1-->qter）的婴儿，并与7例报告的15号染色体远端缺失患者以及15号环状染色体综合征患者的临床表现进行了比较。大多数远端15 q缺失的患者，包括我们的患者，患有宫内发育迟缓（IUGR）、小头畸形、面部和耳部异常、小颌畸形、高度弓形腭、肾脏异常、肺发育不全、发育不良和发育迟缓/智力迟钝。几个基因已被分配到15 q25-->qter区域，包括胰岛素样生长因子1受体（IGF 1 R）。我们的患者的DNA分析记录了一个IGF 1 R基因拷贝的丢失。我们的研究进一步将IGF 1 R基因定位于15q26.1带的远端。有趣的是，推测我们的患者和其他具有类似15号染色体缺失的患者的严重IUGR和出生后生长缺陷与IGF 1 R基因拷贝的丢失有关，这可能导致受体的异常数量和/或结构。
We reported on an infant with a previously undescribed chromosome 15 deletion (q26.1-->qter) and compare the clinical findings with those of 7 reported patients with deletions of distal 15q, as well as ring chromosome 15 syndrome patients. Most of the patients with deletions of distal 15q, including our patient, have intrauterine growth retardation (IUGR), microcephaly, abnormal face and ears, micrognathia, highly arched palate, renal abnormalities, lung hypoplasia, failure to thrive and developmental delay/mental retardation. Several genes have been assigned to the 15q25-->qter region, including insulin-like growth factor 1 receptor (IGF1R). DNA analysis from our patient documented the loss of one IGF1R gene copy. Our study further localizes the IGF1R gene distal to the 15q26.1 band. It is interesting to speculate that the severe IUGR and postnatal growth deficiency of our patient and other patients with similar chromosome 15 deletions are related to the loss of an IGF1R gene copy which may lead to an abnormal number and/or structure of the receptors.