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A CASE WITH 18q DELETION SYNDROME IDENTIFIED WITH B CELL ABSENCE AND CONGENITAL HEART DISEASE.

Chromosome 18q deletion syndrome (OMIM #601808), is a rare disease that is seen approximately once every 40000 live births and is mentioned as autosomal dominant. It is seen more frequently among girls (2, 5). Phenotypical signs of patients may be very different and variable; however, growth retardation, hypoplasia of the mid-section of the face, low body height, mental retardation, hypotonia, microcephaly, loss of hearing, ocular abnormalities such as optical atrophy, nystagmus, coloboma, strabismus, genital abnormalities such as abnormal genitalia and hypospadias as well as cardiac and skeletal deformities are generally present. Recurrent lung infections and Ig A deficiency have been reported in one fourth of the patients (5, 9). Signs that are seen at a lower rate of incidence may include cleft palate and lip, hypertelorism, thin and sparse hair, large hands and tapering digits, clinodactyly, umbilical and inguinal hernia, eczema, convulsion, eating problems and thyroiditis, pernicious anemia and autoimmune endocrine disorders such as diabetes mellitus. Congenital heart diseases are present in approximately 24-35% of the patients (1,3,6).This paper presents a patient with 18q deletion syndrome diagnosed on the basis of phenotypical characteristics and chromosome analysis that was identified to have congenital heart disease and absence of B cells. The female infant, who was delivered as the third live birth after the third pregnancy of a 36-year-old mother at the end of 38 weeks with a weight of 2800 grams through C/S, was hospitalized at the neonatal intensive care service due to her syndromic appearance, hypotonicity and complaints about failure to feed. The mother and father were not related and the other two siblings were healthy. According to the physical examination, the patient's height was 43 cm (The patient's follow-up continued under intensive care and she developed sepsis. No microorganisms could be detected in the patient's cultures. During the patient's assessment carried out in terms of immune deficiency, the serum immunoglobulin levels were found normal (Table II). During the analysis of lymphocyte sub-groups, absence of B cells and low level of NK cells were identified. It was understood during the lymphocyte sub-group examination of the patient that the CD 19 ratio was below 1% and it was understood that absence of B cells was present (Table II). The immune deficiencies that develop due to antibody shortage constitute the primary immune deficiency group that is most frequently seen (8). The absence of primary B cells encompasses a heterogeneous group of immune deficiency diseases and it is characterized by serum immunoglobulin deficiency. …