Detection of 1p36 deletion by clinical exome-first diagnostic approach

被引：14

作者：

Watanabe M. ^{[1
,2
]}

Hayabuchi Y. ^{[3
]}

Ono A. ^{[3
]}

Naruto T. ^{[1
]}

Horikawa H. ^{[1
,4
]}

Kohmoto T. ^{[1
,2
]}

Masuda K. ^{[1
]}

Nakagawa R. ^{[3
]}

Ito H. ^{[3
]}

Kagami S. ^{[3
]}

Imoto I. ^{[1
]}

机构：

[1] Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima

[2] Stu. Laboratory, Faculty of Medicine, Tokushima University, Tokushima

[3] Department of Paediatrics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima

[4] Support Center for Advanced Medical Sciences, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima

来源：

Human Genome Variation | / 3卷 / 1期

基金：

日本学术振兴会;

关键词：

D O I：

10.1038/hgv.2016.6

中图分类号：

学科分类号：

摘要：

Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis.

引用

共 16 条

[1]

Shaffer L.G., Lupski J.R., Molecular mechanisms for constitutional chromosomal rearrangements in humans, Annu Rev Genet, 34, pp. 297-329, (2000)

[2]

Heilstedt H.A., Ballif B.C., Howard L.A., Kashork C.D., Shaffer L.G., Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality, Clin Genet, 64, pp. 310-316, (2003)

[3]

Battaglia A., 1p36 deletion syndrome, Gene Reviews [Internet], (1993)

[4]

Shapira S.K., McCaskill C., Northrup H., Spikes A.S., Elder F.F., Sutton V.R., Et al., Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome, Am J Hum Genet, 61, pp. 642-650, (1997)

[5]

Heilstedt H.A., Ballif B.C., Howard L.A., Lewis R.A., Stal S., Kashork C.D., Et al., Physical map of 1p36, placement of breakpoints in monosomy 1p36, clinical characterization of the syndrome, Am J Hum Genet, 72, pp. 1200-1212, (2003)

[6]

Battaglia A., Hoyme H.E., Dallapiccola B., Zackai E., Hudgins L., McDonald-McGinn D., Et al., Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation, Pediatrics, 121, pp. 404-410, (2008)

[7]

Shimada S., Shimojima K., Okamoto N., Sangu N., Hirasawa K., Matsuo M., Et al., Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications, Brain Dev, 37, pp. 515-526, (2015)

[8]

Miller D.T., Adam M.P., Aradhya S., Biesecker L.G., Brothman A.R., Carter N.P., Et al., Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, Am J Hum Genet, 86, pp. 749-764, (2010)

[9]

Lee C., Iafrate A.J., Brothman A.R., Copy number variations and clinical cytogenetic diagnosis of constitutional disorders, Nat Genet, 39, pp. S48-S54, (2007)

[10]

Miyatake S., Koshimizu E., Fujita A., Fukai R., Imagawa E., Ohba C., Et al., Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: An 'exome-first' approach, J Hum Genet, 60, pp. 175-182, (2015)

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