Author/Authors :
Esmaeili-Bandboni, Aghil Department of Medical Genetics - School of Medicine - Guilan University of Medical Sciences, Rasht, Iran , Davoudi, Arash Division of Cytogenetic - Dr. Keshavarz Medical Genetics Lab, Rasht, Iran , Milani, Forozan Reproductive Health Research Center - Alzahra Hospital - Department of Obstetrics and Gynecology - School of Medicine - Guilan University of Medical Sciences, Rasht, Iran , Afzali, Sara Division of Cytogenetic - Dr. Keshavarz Medical Genetics Lab, Rasht, Iran , Sharafshah, Alireza Division of Cytogenetic - Dr. Keshavarz Medical Genetics Lab, Rasht, Iran , Fallahabadi, Fereshteh Division of Cytogenetic - Dr. Keshavarz Medical Genetics Lab, Rasht, Iran , Keshavarz, Parvaneh Division of Cytogenetic - Dr. Keshavarz Medical Genetics Lab, Rasht, Iran
Abstract :
Background: The common causes of 18p deletion syndrome are spontaneous errors in the
chromosomal structure in the early stages of human embryonic development.
Clinical Presentation and Intervention: In this study, a 29-year-old girl was introduced with
the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that
this case had a deletion involving the short arm of chromosome 18. In comparison with the
usual phenotype of 18p deletion, many phenotypical features of this case were similar to the
other cases of 18p monosomy.
Conclusion: However, two new features; difficulty in speaking and persistent limb tremor, were
found that had not been observed in previous studies on the 18p deletion. Speaking was without
obvious pronunciation, and the patient’s physical movements were always unbalanced. These two
features can be new signs for 18p deletion syndrome.
Keywords :
Karyotype , Tremor , Chromosome 18 , Chromosome deletion
