A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.
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DOI：
10.1002/ajmg.a.62368
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发表时间：
2021-10
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影响因子：
--
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文献类型：
--
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16三体是人类最常见的常染色体三体，几乎是一致的胚胎致死。部分16三体包括16号染色体长臂的一部分，有时与生命相容，并与严重的先天性缺陷、生长迟缓和早期死亡有关。16q的节段性三体通常伴随着另一条染色体的部分单体，通常是由亲本平衡易位引起的。纯粹的部分染色体16q三体是非常罕见的，16q12→qter和16q13→qter重复在文献中仅报道了9例，几乎所有的描述都是第二染色体的单体，并且很少有长期幸存者。在一名婴儿中报道了纯粹的部分远端16q12.1q23.3重复，强调了遗传咨询和管理的复杂性，特别是考虑到罕见幸存者中限制生命的先天性异常。在这里，我们报告了一个12个月大的儿童，纯16q12.2q24.3三体，持续发病与肺动脉高压和慢性肺部疾病有关。宫内发育迟缓、面部畸形、低张力、先天性心脏缺陷、远端挛缩、泌尿生殖系统异常和听力损失等特征支持了与16q部分三体的关联。本报告扩展了我们目前对16号染色体长臂大节段性动脉瘤婴儿生存率的理解。
Trisomy 16 is the most common autosomal trisomy in humans which is almost uniformly embryonic lethal. Partial trisomy 16 including a segment of the long arm of chromosome 16 is occasionally compatible with life and has been associated with severe congenital defects, growth retardation, and early lethality. Segmental trisomy of 16q is usually described concomitantly with partial monosomy of another chromosome, often resulting from a parental balanced translocation. Pure partial chromosome 16q trisomy is exceedingly rare, with 16q12→qter and 16q13→qter duplication reported in only nine cases in the literature, almost all described with monosomy of a second chromosome, and highlighting very few long-term survivors. A single report of pure partial distal 16q12.1q23.3 duplication has been reported in an infant, underscoring complexities of genetic counseling and management, especially in view of life-limiting congenital anomalies in rare survivors. Here we present a 12-month old child with pure 16q12.2q24.3 trisomy, having continued morbidity related to pulmonary hypertension and chronic lung disease. The features of intrauterine growth retardation, facial dysmorphism, hypotonia, congenital heart defect, distal contractures, urogenital abnormalities, and hearing loss support the association with 16q partial trisomy, as in previous studies. This report expands our current understanding related to the survival of infants with large segmental aneusomy of the long arm of chromosome 16.
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影响因子：
--
作者：
Dharmadhikari AV;Gambin T;Szafranski P;Cao W;Probst FJ;Jin W;Fang P;Gogolewski K;Gambin A;George-Abraham JK;Golla S;Boidein F;Duban-Bedu B;Delobel B;Andrieux J;Becker K;Holinski-Feder E;Cheung SW;Stankiewicz P
通讯作者：
Stankiewicz P
DOI：
10.1002/ajmg.10159
发表时间：
2002-02-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Baker, E;Hinton, L;Haan, E
通讯作者：
Haan, E
影响因子：
8.8
作者：
Cheung, SW;Shaw, CA;Beaudet, AL
通讯作者：
Beaudet, AL
影响因子：
2
作者：
Ferrero, GB;Belligni, E;Silengo, M
通讯作者：
Silengo, M
影响因子：
5.3
作者：
HATANAKA, K;OZAKI, M;FUJITA, H
通讯作者：
FUJITA, H