TY - JOUR
T1 - Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia
T2 - Report of one case
AU - Hwu, Wuh Liang
AU - Kuo, Pao Lin
AU - Hung, Yeh Ting
AU - Chien, Yin Hsiu
AU - Chu, Shao Yin
PY - 2004/3
Y1 - 2004/3
N2 - 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.
AB - 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.
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M3 - Article
C2 - 15335120
AN - SCOPUS:3142731937
VL - 45
SP - 97
EP - 99
JO - Acta Paediatrica Sinica
JF - Acta Paediatrica Sinica
SN - 1875-9572
IS - 2
ER -