Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Feto-Maternal Unit, Mahdiyeh Hospital, Tehran, Iran.
Arch Iran Med. 2014 Jul;17(7):521-2.
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.
现报道一例 3 个月女婴，染色体 3 短臂近段单体。体格检查显示生长迟缓、小头畸形、眼睑下垂、小颌畸形、低位耳、宽鼻梁、猿线、长人中、薄唇和斜视。患者的临床表型与 3p- 综合征非常相似，但她的核型比仅仅丢失一条 3 号染色体短臂的端粒部分（3p-25.3）更为复杂。她的核型为 46，XX，t(2;18) (p12;q12.1)，del(3) (p23p26)，t(3;9;15;20) (q13;p23;q12; p12)。其父母的核型模式正常。
