Giardino Daniela, Finelli Palma, Gottardi Giulietta, De Canal Gabriella, Della Monica Matteo, Lonardo Fortunato, Scarano Gioacchino, Larizza Lidia
Laboratorio di Citogenetica, Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.
Am J Med Genet A. 2003 Oct 15;122A(3):261-5. doi: 10.1002/ajmg.a.20287.
We here describe a submicroscopic translocation affecting the subtelomeric regions of chromosomes 2q and 6q identified in a patient referred to us because of mental retardation, obesity, brachydactyly, and short stature. FISH analysis using subtelomeric probes showed a 46,XY,der(2)t(2;6)(q37.3;q26) in the propositus, and a balanced t(2;6) in his father and sister. FISH with region-specific genomic clones made it possible to map the 2q37.3 breakpoint precisely to the region covered by BAC 585E12, and the 6q26 breakpoint to between the regions encompassed by 414A5 and 480A20. The 2q subtelomeric deletion has often been found in patients with Albright hereditary osteodystrophy (AHO)-like syndrome but, to the best of our knowledge, the 2q37.3-qter monosomy ascertained in our patient is the smallest so far described within the syndrome's critical interval, and may thus enhance the search for the responsible genes.
我们在此描述了一种亚显微易位，该易位影响2号染色体长臂（2q）和6号染色体长臂（6q）的亚端粒区域，此易位是在一名因智力发育迟缓、肥胖、短指畸形和身材矮小前来就诊的患者中发现的。使用亚端粒探针进行的荧光原位杂交（FISH）分析显示，先证者为46,XY,der(2)t(2;6)(q37.3;q26)，其父亲和姐姐为平衡的t(2;6)。使用区域特异性基因组克隆进行FISH，使得将2q37.3断点精确定位到BAC 585E12覆盖的区域成为可能，并将6q26断点定位到414A5和480A20所涵盖区域之间。2号染色体亚端粒缺失在患有类似奥尔布赖特遗传性骨营养不良（AHO）综合征的患者中经常被发现，但据我们所知，在我们的患者中确定的2q37.3 - qter单体性是该综合征关键区间内迄今描述的最小的，因此可能有助于寻找致病基因。
