Pure proximal deletion of chromosome 21 and kyphosis

被引：5

作者：

Keren, Boris ^{[1
,3
]}

Bernardin, Celine ^{[1
]}

Toutain, Annick ^{[2
]}

Heron, Delphine ^{[3
]}

Fouquet, Bernard ^{[4
]}

Laudier, Beatrice ^{[2
]}

Telvi, Louise ^{[5
]}

Romana, Serge Pierrick ^{[1
]}

Vekemans, Michel ^{[1
]}

Sanlaville, Damien ^{[1
,6
]}

机构：

[1] Hop Necker Enfants Malad, Cytogenet Serv, AP HP, Paris, France

[2] CHU Bretonneau, Serv Genet, F-37044 Tours, France

[3] Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75634 Paris, France

[4] CHU Trousseau, Serv Med Phys & Readaptat Fonct, Tours, France

[5] Hop St Vincent de Paul, AP HP, Serv Histol Embryol Cytogenet & Anat Pathol, F-75674 Paris, France

[6] Univ Lyon 1, Cytogenet Serv Constitut, Hosp Civils Lyon, Hop Edouard Herriot, Lyon, France

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2007年 / 50卷 / 06期

关键词：

deletion; 21q; kyphosis; FISH;

D O I：

10.1016/j.ejmg.2007.08.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on two unrelated patients with a proximal deletion of the long arm of chromosome 21. The deletion encompassed 14.5 Mb of DNA. Molecular studies showed that the two telomeric breakpoints were within the same DNA clone (BAC RP 11-56D12). The centromeric breakpoints, however, were separated by only 250 kb of DNA (BAC RP11-645E14 and RP11-324B9). The phenotype observed in the two patients was very different, as patient 2, who had the largest deletion, had severe kyphosis not observed in patient 1. Previous studies have identified a 6 Mb region of chromosome 21 associated with severe kyphosis. Interestingly, this region overlaps the 250 kb segment deleted in patient 2. We suggest that one gene (NT011512.4) located in this small overlapping region might be responsible for severe kyphosis. (C) 2007 Elsevier Masson SAS. All rights reserved.

引用

页码：469 / 474

页数：6

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