A Case of 2q-Syndrome 46, XX, del (2) (q33q35)

A long arm deletion of chromosome 2 is very rarely reported. Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand and foot abnormalities. We experienced a case of partial monosomy 2 in a 5-months-old girl, who showed low set ears, hypertelorism, low nasal bridges, small mouth, cleft palate, inguinal hernia. Chromosome analysis on a G banding with high resolution showed a deletion of the long arm of chromosome 2. Her karyotype was designated as 46, XX, del (2) (q33q35). A brief review of the literature is also presented.

A Case of Nezelof's Syndrome

Nezelof's syndrome(combined immunodeficiency with immunoglobulin) is a hereditary primary immunodeficiency characterized by recurrent chronic pulmonary infections, oral and cutaneous candidiasis, failure to thrive, chronic diarrhea, skin infection, urinary tract infection, gram-negative sepsis, severe progressive varicella infection, lymphopenia, diminished lymphoid tissue, abnormal structure of the thymus, and presence of normal or increased levels of one or more of the major immunoglobulin classes, but with impaired antibody synthesis. We experienced a case of Nezelof's syndrome in 5-month-old boy who complained cough, poor feeding, vomiting and diarrhea in first admission day and discharged with recovered general condition in 38th admission day and then died of recurrent bacterial and fungal infections and malnutrition in 15-month-old age. He had no thymic shadow in chest X-ray and immunologic abnormalities including decreased lymphocyte count, decreased T cell count and function, normal number of B cell count and immunoglobulins with funtional impairment in antibody synthesis. We report a case of Nezelof's syndrome with brief review of related literatures.