Mosaic trisomy 16 in a fetus: The complex relationship between phenotype and genetic mechanisms

Prenatal Diagnosis

Volumn 26, Issue 12, 2006, Pages 1179-1182

  Moradkhani, Kamran ^a   Puechberty, Jacques ^a   Blanchet, Patricia ^a   Coubes, Christine ^a   Lallaoui, Hakima ^b   Lewin, Patricia ^c   Lefort, Genevieve ^a   Sarda, Pierre ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b Laboratory of Cytogenetics   (France)

^c LABORATOIRE CERBA   (France)

Author keywords

Amniocentesis; Fetal abnormalities; Fetal ultrasonography; Trisomy 16 mosaicism; Uniparental disomy

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN BETA SUBUNIT;

ABORTION; ADULT; AMNION FLUID; ANAMNESIS; ARTICLE; AUTOPSY; CASE REPORT; CEREBELLUM VERMIS; CHORION VILLUS; CHROMOSOME 16; DOWN SYNDROME; FAMILY HISTORY; FEMALE; FETUS; FETUS ECHOGRAPHY; GALLBLADDER AGENESIS; GASTROINTESTINAL DISEASE; GENETIC ASSOCIATION; GENETIC RISK; GESTATIONAL AGE; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; MALE; MOSAICISM; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; TRISOMY 16; UNIPARENTAL DISOMY;

ABORTION, INDUCED; ADULT; ALPHA-FETOPROTEINS; AMNIOCENTESIS; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; FETAL DISEASES; FETAL GROWTH RETARDATION; HUMANS; KARYOTYPING; MALE; MOSAICISM; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 33845588639     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1585     Document Type: Article

References (14)

1. Benn P. 1998. Trisomy 16 and trisomy 16 mosaicism. Am J Med Genet 79: 121-133.
2. Eggermann T, Curtis M, Zerres K, Hughes HE. 2004. Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases. Genet Couns 15: 183-190.
3. Hsu WT, Shchepin DA, Mao R, et al. 1998. Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet 80: 473-480.
4. Johnson P, Duncan K, Blunt S, et al. 2000. Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report. Prenat Diagn 20: 417-421.
5. Kotzot D, Utermann G. 2005. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet A 136: 287-305.
6. Langlois S, Yong PJ, Yong SL, Barret I, Kalousek DK, Miny P. 2005. The American Society of Human Genetics; 55th Annual Meeting, Salt Palace Convention Center, Salt Lake City, Utah, October 25-29, Poster No. 2253.
7. Moore GE, Ali Z, Khan RU, Blunt S, Bennett PR, Vaughan JI. 1997. The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies. Am J Obstet Gynecol 176: 294-299.
8. Pletcher BA, Sanz MM, Schlessel JS, et al. 1994. Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns. Prenat Diagn 14: 933-940.
9. Sanchez JM, Lopez De Diaz S, Panal MJ, et al. 1997. Severe fetal malformations associated with trisomy 16 confined to the placenta. Prenat Diagn 17: 777-779.
10. Tantravahi U, Matsumoto C, Delach J, Craffey A, Smeltzer J, Benn P. 1996. Trisomy 16 mosaicism in amniotic fluid cell cultures. Prenat Diagn 16: 749-754.
11. Vaughan J. Ali Z, Bower S, Bennett P, Chard T, Moore G. 1994. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 14: 751-756.
12. Wolstenholme J. 1995. An audit of trisomy 16 in man. Prenat Diagn 15: 109-121.
13. Yancey MK, Hardin EL, Pacheco C, Kuslich CD, Donlon TA. 1996. Non-mosaic trisomy 16 in a third-trimester fetus. Obstet Gynecol 87: 856-860.
14. Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. 2003. Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet 40: 175-182.