Partial Trisomy 3p and Partial Monosomy 11q Associated with Atrial Septal Defect, Cleft Palate, and Developmental Delay: A Case Report
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Partial Trisomy 3p and Partial Monosomy 11q Associated with Atrial Septal Defect, Cleft Palate, and Developmental Delay: A Case Report
Unbalanced translocation involving both chromosome 3p duplication and 11q deletion in the same patient is extremely rare; only 1 live-born case was reported previously. This karyotype was also detected during prenatal diagnosis of 2 different pregnancies in a Taiwanese family which were both terminated. In all 3 cases, only standard karyotyping was done to detect the abnormal karyotypes. Here, we report a 4-year-old boy with cleft palate, atrial septal defect, and hypotonia with gross and fine m
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Tags: Congenital Heart Defect, Septal Defect, Atrial Septal Defect, Throat, Cleft Palate, Pregnancy, Relationship
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