Clinical Feutures of a Case with Eing Chromosome 18


Zamanian M *, Nasiri F , Mortezapour F , Manouchehri F , Razazian F , Rahnama M , Mahjoubi F ,

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Objective: Chromosome 18 Ring is a rare disorder in which there is loss (deletion) of genetic material from one or both ends of the 18th chromosome and joining of the chromosomal ends to form a ring. Associated symptoms and findings may vary greatly in range and severity from case to case, depending upon the amount and location of lost genetic material and other factors. A ring may also be formed without the loss of any genetic material Materials and Methods: Lymphocyte cultures from the patients were set up in RPMI1640 supplemented with 20% FBS.high resolution chromosome banding was performed in all subject. Results: Karyotyping after lymphocyte culture at the age of 14 months revealed 46,XX,r(18)(q21.2qter). The parent had normal karyotype. The clinical feature of our case is mostly compatible with the other reported cases of r(18) except the presence of abnormal teeth and heart problem. This report further contribute to to the clinical of the r(18). Conclusion: Here we report an additional case of a 14 months girl with r (18). The girl was born at term after an uncomplicated pregnanacy and delivery. Birth weight was about 1.5 kg, length 48cm, and head circumference 36cm. The girls presented hypertelorism, hypotonia, epicanthal folds, abnormal fingers, low set ears, and abnormally growth teeth. Echocardiography indicated dilation of the aorta. Karyotyping after lymphocyte culture at the age of 14 months revealed 46,XX,r(18)(q21.2qter). The parent had normal karyotype. The clinical feature of our case is mostly compatible with the other reported cases of r(18) except the presence of abnormal teeth and heart problem. This report further contribute to to the clinical of the r(18).