Cantu J M, Salamanca F, Buentello L, Carnevale A, Armendares S
Ann Genet. 1975 Mar;18(1):5-11.
Trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
通过G显带法诊断出两名患有多种先天性缺陷的姐妹存在10号染色体短臂三体。她们的母亲和另外两名姐妹表现出平衡易位46,XX rcp(10;21)(p11;p11)，因此受影响的女孩是母源相邻-1减数分裂分离的结果，核型为46,XX, der(21), rcp(10;21)(p11;p11)mat。异常患者的一致特征构成以下综合征：严重精神运动发育迟缓、先天性身材矮小、轻度脑积水伴颅面比例失调、低位耳伴螺旋发育不全、眼裂、肺动脉狭窄、手腕和肘部屈曲畸形、双侧第五指内弯和猿掌纹、皮肤嵴发育不全、双侧畸形足、持续性黄疸和骨龄延迟。表型和细胞遗传学发现使得10p三体得以个体化。
