Molecular-cytogenetic detection of a deletion of 1p36.3

被引:39
作者
Giraudeau, F
Aubert, D
Young, I
Horsley, S
Knight, S
Kearney, L
Vergnaud, G
Flint, J
机构
[1] JOHN RADCLIFFE HOSP, INST MOL MED, OXFORD OX3 9DU, ENGLAND
[2] CHU NANTES, INST BIOL, LAB RECH GENET ESPECES, F-44035 NANTES, FRANCE
[3] CTR ETUD BOUCHET, F-91710 VERT LE PETIT, FRANCE
[4] CITY HOSP, NOTTINGHAM NG5 1PB, ENGLAND
基金
英国惠康基金;
关键词
mental retardation; chromosome 1p deletion; subtelomeric rearrangement; MENTAL-RETARDATION; CHROMOSOME; REPEATS;
D O I
10.1136/jmg.34.4.314
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report a deletion of 1p36.3 in a child with microcephaly, mental retardation, broad forehead, deep set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. The phenotype is consistent with that described for partial monosomy for 1p36.3. Reverse chromosome painting and microsatellite and Southern blot analyses were used to map the extent of the deletion. Fluorescence in situ hybridisation (FISH) analysis using probes from every telomere indicates that the rearrangement is likely to be a chromosomal truncation or rearrangement involving subtelomeric repetitive DNA. The deletion was identified by screening a sample of children and adults with idiopathic mental retardation. In conjunction with previous work on this sample, we estimate that 7.4% of the group have subtelomeric rearrangements.
引用
收藏
页码:314 / 317
页数:4
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