Aledo A G, Gracia R, López Pajares I, González M, Oliver A, Peralta A
An Esp Pediatr. 1982 Aug;17(2):125-9.
Authors have had the opportunity to study a patient affected by a malformative syndrome with severe motricity and mental retardation. Physical findings (namely: spacious forehead, flat and round face, small palpebral fissures, hypotonicity and growth retardation) are similar to the phenotype previously described in trisomy 10q. Chromosomal diagnosis failed until G, Q and R banding technique was applied. With this technique a partial 10q trisomy (q24 leads to q ter) due to a maternal translocation t(6:10)(q26;q24) was found.
作者有机会研究一名患有畸形综合征且伴有严重运动和智力发育迟缓的患者。体格检查结果（具体为：额头宽阔、脸扁平且圆、睑裂小、肌张力减退和生长发育迟缓）与先前在10q三体综合征中描述的表型相似。在应用G、Q和R显带技术之前，染色体诊断未能成功。通过该技术发现，由于母亲的t(6;10)(q26;q24)易位，导致部分10q三体（q24至q末端）。
