Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case

Wuh Liang Hwu, Pao-Lin Kuo, Yeh Ting Hung, Yin Hsiu Chien, Shao Yin Chu

研究成果: Article

2 引文 斯高帕斯(Scopus)

摘要

We report a male patient with a 46, XY, der (11) t (1; 11) (q31; q25) karyotype due to de novo unbalanced translocation. The boy had facial dysmorphism including prominent wide forehead, short bilateral palpebral fissures, broad nasal bridge, low set and malformed ears, digitalization of thumbs, and small testes. Besides, he also suffered from congenital hydrocephalus and hypogammaglobulinemia, which have not been described in trisomy lq syndrome. The additional chromatin material on the long arm of chromosome 11 segment was derived from chromosome 1, as proved by high-resolution banding and multiple-color FISH study. This case report allows a further delineation of the trisomy lq syndrome.

原文English
頁(從 - 到)97-99
頁數3
期刊Acta Paediatrica Taiwanica
45
發行號2
出版狀態Published - 2004 三月 1

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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