INCOMPLETE TRISOMY-22 .1. FAMILIAL 11-22 TRANSLOCATION WITH 3-1 MEIOTIC DISJUNCTION - DELINEATION OF A COMMON CLINICAL PICTURE AND REPORT OF 9 NEW CASES FROM 6 FAMILIES
INCOMPLETE TRISOMY-22 .1. FAMILIAL 11-22 TRANSLOCATION WITH 3-1 MEIOTIC DISJUNCTION - DELINEATION OF A COMMON CLINICAL PICTURE AND REPORT OF 9 NEW CASES FROM 6 FAMILIES
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DOI：
10.1007/bf00274675
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发表时间：
1981-01-01
期刊：
影响因子：
5.3
通讯作者：
GRUBISIC, A
中科院分区：
文献类型：
--
作者：
SCHINZEL, A;SCHMID, W;GRUBISIC, A
本文报道了9例自身观察的11/22易位染色体3：1分离综合征和22例文献报道的11/22易位染色体3：1分离综合征。常见的发现包括特征性的脸，眼睛深陷，扁平的鼻子，突出的上唇，后退的下颌骨和耳前窝或标签，男性生殖器发育不全，肛门闭锁或肛门的其他异常，腭裂和先天性心脏病缺陷。少见的是耳廓严重缩小、多一对肋骨和膈肌发育不全。围产期死亡率很高。生长发育通常会延迟，心理发育总是严重延迟。平衡11/22易位显然在遗传学上是常见的;由于平衡重排不容易检测，因此在对具有类似于22或22 q-的额外染色体的病例进行家族调查时，了解它是很重要的。不平衡产物很可能是22（22 q-）片段和11 q远端片段的三体;由于易位中涉及的2个片段的带型特征相似，目前不可能准确确定断点。
A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from 9 personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deepset eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually delayed and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to 22 or 22q-. The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the 2 segments involved in the translocation.