title: Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome.
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 telomeric 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.
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. davood_omrani@sbmu.ac.ir.
authors: Mir Davood
authors: MD
authors: Omrani
authors: Feto-Maternal Unit, Mahdiyeh Hospital, Tehran, Iran.
authors: Soraya
authors: S
authors: Saleh Gargari
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Faezeh
authors: F
authors: Azizi
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Niloufar
authors: N
authors: Safavi Naini
authors: Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Sara
authors: S
authors: Omrani
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014178:Translocation, Genetic / Q000235:genetics*