PDF(Pubmed)
Abstract：
UNASSIGNED: Among the total 10 reported cases with 20p13 microdeletion, including our patient, it is notable that 50% of patients presented a height below the 3rd percentile. We suggest that short stature is among the most common manifestations in patients with 20p13 subtelomeric microdeletion.
UNASSIGNED: Chromosome 20p13 microdeletion occurs rarely, with only 10 reported cases. We report a 16-year-old male with a 1.59 Mb terminal deletion in chromosome 20p13, who presented with proportionate short stature, mild language delay, mild learning disability, and delayed puberty. The clinical phenotype associated with this deletion can exhibit clinical variability. Our patient deviates from the typical developmental and intellectual phenotype seen in the 20p13 deletion, instead displaying mild speech delay, short stature, and delayed puberty. The CSNK2A1 deletion, leading to haploinsufficiency, might be the potential mechanism. And the prominence of his proportionate short stature provides a unique perspective to review the existing literature.
UNASSIGNED: Chromosome 20p13 microdeletion occurs rarely, with only 10 reported cases. We report a 16-year-old male with a 1.59 Mb terminal deletion in chromosome 20p13, who presented with proportionate short stature, mild language delay, mild learning disability, and delayed puberty. The clinical phenotype associated with this deletion can exhibit clinical variability. Our patient deviates from the typical developmental and intellectual phenotype seen in the 20p13 deletion, instead displaying mild speech delay, short stature, and delayed puberty. The CSNK2A1 deletion, leading to haploinsufficiency, might be the potential mechanism. And the prominence of his proportionate short stature provides a unique perspective to review the existing literature.
摘要：
■在总共10例报告的20p13微缺失病例中，包括我们的病人,值得注意的是,50%的患者的身高低于第3百分位数.我们建议，身材矮小是20p13亚端粒微缺失患者最常见的表现之一。
■染色体20p13微缺失很少发生，只有10例报告病例。我们报告了一名16岁的男性，在染色体20p13上有1.59Mb末端缺失，他的身材矮小，轻度语言延迟，轻度学习障碍,推迟了青春期。与该缺失相关的临床表型可表现出临床变异性。我们的患者偏离了20p13缺失中的典型发育和智力表型，而不是显示轻微的说话延迟，身材矮小,推迟了青春期。CSNK2A1删除，导致单倍体不足，可能是潜在的机制。而他的比例矮小的突出地位为回顾现有文献提供了独特的视角。
■染色体20p13微缺失很少发生，只有10例报告病例。我们报告了一名16岁的男性，在染色体20p13上有1.59Mb末端缺失，他的身材矮小，轻度语言延迟，轻度学习障碍,推迟了青春期。与该缺失相关的临床表型可表现出临床变异性。我们的患者偏离了20p13缺失中的典型发育和智力表型，而不是显示轻微的说话延迟，身材矮小,推迟了青春期。CSNK2A1删除，导致单倍体不足，可能是潜在的机制。而他的比例矮小的突出地位为回顾现有文献提供了独特的视角。
