A RARE CASE WITH CLEFT PALATE / LIP: PARTIAL TRISOMY 8Q24
Authors/Creators
- 1. 1Manisa Celal Bayar University Faculty of Medicine, medical genetics, Manisa, (Turkey)
Description
OBJECTIVES
Cleft palate / lip is one of the common congenital craniofacial anomalies and its prevelance is 1-2 / 1000. This anomaly requires a multidisciplinary approach because it is important in the physical and psychological development of the patients. Cleft palate / lip may be accompanied by a syndrome or may be seen as isolated. In this study, we aimed to present a rare partial trisomy 8 in a syndromic patient with cleft palate / lip and accompanying congenital anomalies occurring as a result of maternal balanced translocation.
MATERIAL AND METHODS
Peripheral venous blood chromosome analysis was performed on proband and the parents'. Phytohemagglutinin (PHA) -induced peripheral blood lymphocytes cultures were used for the study. The chromosomes of 30 G-banded metaphases (500-550 band level) were examined for numerical and structural chromosome abnormalities. The thirty metaphase areas stained with giemsa trypsin banding technique were evaluated according to the 2016 International System for Human Cytogenetic Nomenclature (ISCN).
RESULTS
On the physical examination of the newborn, cleft palate / lips and umbilical hernia were detected. There was no consanguineous marriage between his parents. Chromosome analysis showed that the mother had a balanced reciprocal translocation carrier, 46, XX, t (8; 17) (q24.1; p13). Patient 46, XY, der (17), t (8; 17) (q24.1; p17) mat chromosome was detected.
CONCLUSIONS
Conventional karyotyping analysis revealed a rare trisomy 8q24 syndrome. Chromosomal anomalies are a condition that must be kept in mind with various findings from prenatal period to adulthood. Individuals with a balanced chromosomal translocation carrier may transmit this condition unsteadily to children with abnormal segregation during gametogenesis. This balanced translocation, which is also found in the mother, has clinical findings consistent with trisomy 8q24 syndrome, which is a rare disorder resulting in unbalanced transfer of the patient.