Familial Balanced Reciprocal Translocation [t(16;22)(p11;q13)mat] in a Child With Constitutional Short Stature

Abstract

    One of the reasons of most frequent application to Clinics of Pediatric Endocrinology is short stature. The major reasons are familial short stature, constitutional delay, systematic diseases, lack of nutrition and endocrine disorders. Chromosomal analysis is required for cases whose reason cannot be detected and especially has a dysmorphic appearance. Our patient was a 12 year old boy who had applied due to complaint of short stature, with no detected pathology in routine examinations and in whom reciprocal translocation that scoped chromosomes number 16 and 22 in the cytogenetic analysis conducted in the Genetic Diagnosis Laboratory was detected. In the cytogenetic examination conducted on family members, it has been detected that the child’s mother and mother’s father carried the same translocation, however, did not have any visible physical anomalies. According to the literature data at hand, our patient is the first short stature case that is a carrier of balanced reciprocal translocation between the 16 and 22 numbered chromosomes. In this study, the patient’s clinical and laboratory characteristics, detailed family history and genetic study results are discussed under the light of the literature information.




 doi:10.4021/jmc534w