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

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2 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)97-99
Number of pages3
JournalActa Paediatrica Taiwanica
Volume45
Issue number2
Publication statusPublished - 2004 Mar

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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