Biomedical subjects

Pao-Lin Kuo

Publications and source records attributed to Pao-Lin Kuo.

38 records · Page 3Linked to original sources

PubMedDate not supplied

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

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 1q 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 1q syndrome.

Abnormalities, Multiple↗

PubMedDate not supplied

Early diagnosis of Prader-Willi syndrome in a newborn.

Prader-Willi syndrome (PWS) is a multiple-systemic disorder with many manifestations related to hypothalamic insufficiency, with obesity and behavioral problems as the major causes of morbidity and mortality. We describe a 2-day-old boy who initially presented with neonatal hypotonia and was diagnosed as PWS based on abnormal DNA methylation patterns in the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene at the age of one week, despite the absence of other classical features. Molecular diagnosis for PWS, which has become available in recent years, should be considered for neonates with undiagnosed central hypotonia.

Chromosome Deletion↗