Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation

Taiwanese Journal of Obstetrics and Gynecology

Volumn 51, Issue 1, 2012, Pages 109-111

  Tan, Shun Jen ^a   Chen, Chi Huang ^a   Chen, Chih Ping ^b,c   Chen, Chun Wen ^a,d   Chen, Cheng Yu ^a   Hwang, Kwei Shuai ^a  

^a TRI SERVICE GENERAL HOSPITAL   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d TAICHUNG ARMED FORCES GENERAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME 15; CHROMOSOME MOSAICISM; DANDY WALKER SYNDROME; DOWN SYNDROME; FEMALE; FETUS ECHOGRAPHY; FETUS HYDROPS; GENETIC RISK; GESTATIONAL AGE; HUMAN; INTRAUTERINE GROWTH RETARDATION; MOSAIC RING CHROMOSOME 15; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTERIOR CRANIAL FOSSA TUMOR; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; RING CHROMOSOME;

ADULT; CHORIONIC GONADOTROPIN; CHROMOSOMES, HUMAN, PAIR 15; DANDY-WALKER SYNDROME; DOWN SYNDROME; FEMALE; HUMANS; KARYOTYPE; MAGNETIC RESONANCE IMAGING; MOSAICISM; PREGNANCY; RING CHROMOSOMES; ULTRASONOGRAPHY, PRENATAL;

EID: 84862809700     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2012.01.022     Document Type: Article

References (10)

1. Liu Y.H., Chang S.D., Chen F.P. Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15. Prenat Diagn 2001, 21:1031-1033.
2. Glass I.A., Rauen K.A., Chen E., Parkes J., Alberston D.G., Pinkel D., et al. Ring chromosome 15: characterization by array CGH. Hum Genet 2006, 118:611-617.
3. Hatem E., Meriam B.R., Walid D., Adenen M., Moez G., Ali S. Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia. Prenat Diagn 2007, 27:471-474.
4. Manolakos E., Vetro A., Kitmirides S., Papoulidis I., Kosyakova N., Mrasek K., et al. Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH. Prenat Diagn 2009, 29:884-888.
5. Kotzot D. Prenatal testing for uniparental disomy: indications and clinical relevance. Ultrasound Obstet Gynecol 2008, 31:100-105.
6. Towner D.R., Shaffer L.G., Yang S.P., Walgenbach D.D. Confined placental mosaicism for trisomy 14 and maternal unoparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction. Prenat Diagn 2001, 21:395-398.
7. Ieshima A., Takeshita K., Shirasaka Y., Nakao Y., Kisa T. Distal 15q trisomy with Dandy-Walker malformation in a female infant. Jinrui Idengaku Zasshi 1985, 30:227-232.
8. Titomanlio L., De Brasi D., Romano A., Genesio R., Diano A.A., Del Giudice E. Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. Acta Paediatr 2006, 95:861-863.
9. Chen C.P., Chen C.P., Shih J.C. Association of partial trisomy 9p and the Dandy-Walker malformation. Am J Med Genet A 2005, 132A:111-112.
10. Chen C.P., Tzen C.Y., Chern S.R., Tsai F.J., Hsu C.Y., Lee C.C., et al. A 12 Mb deletion of 6p24.1→pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys. Eur J Med Genet 2009, 52:59-61.