Title of article :
Complex Translocation among Chromosomes 2, 3, 9, 15, 18, 20 in a Patient With 3p- Syndrome
Author/Authors :
Omrani, Davood shahid beheshti university of medical sciences - Faculty of Medicine - Department of Medical Genetics, تهران, ايران , Saleh Gargari, Soraya Mahdiyeh Hospital - Feto-Maternal Unit, ايران , Azizi, Faezeh shahid beheshti university of medical sciences - Faculty of Medicine - Department of Medical Genetics, تهران, ايران , Safavi Naini, Niloufar shahid beheshti university of medical sciences - Faculty of Medicine - Department of Medical Genetics, تهران, ايران , Omrani, Sara shahid beheshti university of medical sciences - Faculty of Medicine, تهران, ايران
Abstract :
A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient’s clinical phenotype largely resembled that of 3p-syndrome but her karyotype was more complicated than just losing the telo- meric portion (3p-25.3) of the short arm of one of her chromosomes 3. Her karyotype was 46, XX, t(2;18) (p12;q12.1), del(3) (p23p26), t(3; 9;15;20) (q13;p23;q12;p12). Her parents showed a normal karyotype pattern.
Keywords :
Chromosome 3 , multiple congenital anomalies , partial monosomy 3p
Journal title :
Archives of Iranian Medicine
Journal title :
Archives of Iranian Medicine
