Evaluation of Chromosomal Analyses done on the Parents with Chromosomal Anomalous Children and Recurrent Abortion

PURPOSE: To gather reference data for better genetic counseling, we have evaluated the outcomes of chromosomal analyses performed on the parents with chromosomal anomalous children and recurrent abortion in this hospital for the last 20 years. METHODS: Subjected to study were 108 parents (50 fathers & 58 mothers) who had children with Down syndrome, other chromosomal and congenital anomalies, and those who had experienced frequent miscarriages from March 1974 through August 1994. The Moorhead's method with G banding technique was used. RESULTS: 1) Of those 108 parents studied, 52 (48.1%) had Down babies, 27 (25.0%) had frequent miscarriages or stillbirths, 22 (20.4%) had children with congenital anomalies, and 7 (6.5%) had other chromosomal anomalies. 2) Abnormal karyotypes were detected in 9 (8.3%): 6 among 52 parents with Down babies (11.5%), 1 out of 7 parents whose children had other chromosomal abnormalities (14.2%), and 2 from 27 who had experienced miscarriages (7.4%). 3) Abnormal karyotypes of the parents who had Down babies were: balanced 14q21q translocations in 2 mothers and 1 father, balanced 21q21q translocation in a carrier mother who looked like Down's, and 14q+ in a normal-looking father. Among the parents having babies with anomalies other than Down's, one mother who gave births to 2 babies, one with balanced and the other with unbalanced translocation, was found to carry t(12;13) balanced translocation. Two women who had experienced frequent miscarriages were found to have balanced 14q21q translocation in one and XXq- in the other. 4) Abnormal karyotypes detected in 6 among those 52 parents with Down babies were: 3 out of 38 whose babies had 21-trisomy (7.9%), 2 among 8 parents having babies with 14q21q translocation (25%), and one from 6 parents whose babies had 21q21q translocation (16.7%). 5) Out of 375 Down children, 3 had Down sibling, with the overall recurrence rate of 0.8%, and 2 out of 6 parents of those 3 families were revealed to be balanced translocation carriers. CONCLUSIONS: The high incidence of carrying chromosomal anomaly among the parents having chromosomal anomalous children, but otherwise normal-looking, advocates it essential to have the parents analyzed for their chromosomal make-ups in order to provide better genetic counseling to those who gave birth to a baby with chromosomal abnormality or experienced frequent miscarriages.

Relationship between Complications of Mycoplasma Pneumonia and Titers of Cold Agglutinin and Mycoplasma Antibody in Children

PURPOSE: To assess the relationship between the complications of mycoplasma pneumonia and titers of cold agglutinin and mycoplasma antibody in children. METHODS: 120 cases of mycoplasmal pneumonia in children who were admitted to the Pediatric Department of Kwangju Christian Hospital between June 1993 and May 1994 were analyzed. RESULTS: 1) The peak incidence of age was between 2 and 6 years, and the sex ratio of boy to girl was 1 : 1.1. 2) Chest X-ray examinations revealed that the most common type of pneumonia was bronchopneumonia(51 cases, 42.5%); unilateral involvement was common(60.8%); and the lower lobe was the most commonly involved(50 cases, 41.6%). 3) Pulmonary complications were sinusitis in 43 cases(35.8%), followed by atelectasis in 24, pleural effusion in 18, asthma in 15, pharyngitis in 9, laryngitis in 4 and Swyer- James syndrome in 1 case. 4) Extrapulmonary complications were hepatitis in 12 cases, proteinuria in 7, hematuria in 5, convulsion in 3, psychosis in 3 and nephrotic syndrome, encephalitis and disseminated intravascular coagulation in 1 each. 5) No significant relationships were found between the duration of pneumonia and cold agglutinin titer, and between the duration of pneumonia and mycoplasma antibody titer(p>0.05). 6) The occurrence rate of the complications was not related to cold agglutinin titer(r=0.291); but it was significantly related to mycoplasma antibody titer(r=0.764), i.e., the higher the mycoplasma antibody titer, the higher incidence of complications. CONCLUSIONS: The occurrence rate of complications of mycoplasma pneumonia was not related to cold agglutinin titer, but it was significantly correlated with mycoplasma antibody titer.

Clinical Characteristics of Patients with Tumer Syndrome according to Karyotypic Differences

No abstract available.