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1

24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.一名患有肺动脉闭锁、室间隔缺损、小头畸形、发育迟缓及面部畸形的婴儿存在6q22.1至q23.2区域24兆碱基的缺失。

Eur J Med Genet. 2006 Nov-Dec;49(6):516-9. doi: 10.1016/j.ejmg.2006.04.002. Epub 2006 May 15.

2

Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.3号染色体长臂间质性缺失：病例报告、综述及表型定义

Am J Med Genet. 1987 Aug;27(4):781-6. doi: 10.1002/ajmg.1320270406.

3

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.1号染色体（p34.2p34.3）上的一个新型微缺失，涉及SLC2A1（GLUT1）基因，以及严重的发育迟缓。

Dev Med Child Neurol. 2007 May;49(5):380-4. doi: 10.1111/j.1469-8749.2007.00380.x.

4

A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.一名身材矮小、运动发育迟缓及颅面畸形女童中涉及7q22.3q32.1的23.1 Mb新型间质性缺失

Cytogenet Genome Res. 2015;145(1):1-5. doi: 10.1159/000381234. Epub 2015 Apr 2.

5

[A rare combination of partial trisomy 9 with pulmonary atresia].

Klin Padiatr. 1997 May-Jun;209(3):127-9. doi: 10.1055/s-2008-1043941.

6

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.一名患有言语和语言障碍、腭裂、癫痫、室间隔缺损、智力障碍及发育迟缓的男孩，其15号染色体长臂14区存在一个5.6兆碱基的缺失。

Eur J Med Genet. 2008 Jul-Aug;51(4):368-72. doi: 10.1016/j.ejmg.2008.02.011. Epub 2008 Mar 29.

7

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.间质性6q缺失：一名新患者的临床及阵列比较基因组杂交特征分析

Eur J Med Genet. 2005 Jul-Sep;48(3):339-45. doi: 10.1016/j.ejmg.2005.04.010.

8

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.6号染色体p22.3带7.1兆碱基的间质缺失与发育迟缓及畸形特征相关，包括心脏缺陷、短颈和眼部异常。

Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1.

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Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.两名发育迟缓的中国患者的 11q 远端缺失的诊断和精细定位。

J Hum Genet. 2010 Aug;55(8):486-9. doi: 10.1038/jhg.2010.51. Epub 2010 Jun 3.

10

Report of two cases of distal deletion of the long arm of chromosome 6.6号染色体长臂远端缺失两例报告。

Am J Med Genet. 1988 Apr;29(4):807-14. doi: 10.1002/ajmg.1320290410.

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一名患有肺动脉闭锁、室间隔缺损、小头畸形、发育迟缓及面部畸形的婴儿存在6q22.1至q23.2区域24兆碱基的缺失。

24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.

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