Prenatal diagnosis of double autosomal mosaicism (47,XX,+8/47,XX,+14): Phenotype and molecular cytogenetic analysis on different tissues

被引：13
作者：
Matheson, JKB
Matheson, VA
McCorquodale, M
Santolaya-Forgas, J
机构：
[1] Texas Tech Univ, Hlth Sci Ctr, Dept Obstet & Gynecol, Dept Reprod Genet, Amarillo, TX 79106 USA
[2] Univ Illinois, Div Reprod Genet, Chicago, IL USA
[3] Williams Coll, Dept Econ, Div Reprod Genet, Williamstown, MA 01267 USA
[4] Michael Reese Hosp & Med Ctr, Div Reprod Genet, Chicago, IL 60616 USA
来源：
FETAL DIAGNOSIS AND THERAPY | 2003年 / 18卷 / 01期
关键词：
omphalocele; cleft palate; clubfeet; heart defect; prenatal diagnosis; mosaicism; amniocentesis; FISH;
D O I：
10.1159/000066380
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
A female fetus with multiple congenital anomalies was found to have double autosomal mosaicism, 47,XX,+8/ 47,XX,+14 on chromosome analysis via amniocentesis. At delivery, the proband displayed dysmorphic features. of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects. Fluorescence in situ hybridization demonstrated a marked discrepancy in cell line populations in the tissues examined. Copyright (C) 2003 S. Karger AG, Basel.
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收藏
页码：29 / 32
页数：4
相关论文
共 16 条
[1]  
BERRY AC, 1978, CLIN GENET, V14, P105
[2]   Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow [J].
Campbell, S ;
Mavrides, E ;
Prefumo, F ;
Presti, F ;
Carvalho, JS .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2001, 17 (04) :341-343
[3]   Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization -: Evaluation of >3,000 cases [J].
Eiben, B ;
Trawicki, W ;
Hammans, W ;
Goebel, R ;
Pruggmayer, M ;
Epplen, JT .
FETAL DIAGNOSIS AND THERAPY, 1999, 14 (04) :193-197
[4]  
GORLIN RJ, 1990, SYNDROMES HEAD NECK, P49
[5]  
JONES KL, 1997, SMITHS RECOGNIZABLE, P24
[6]   TRISOMY-8 MOSAICISM IN CHORIONIC VILLUS SAMPLING - CASE-REPORT AND COUNSELING ISSUES [J].
KLEIN, J ;
GRAHAM, JM ;
PLATT, LD ;
SCHRECK, R .
PRENATAL DIAGNOSIS, 1994, 14 (06) :451-454
[7]   CYTOGENETIC RESULTS FROM THE UNITED-STATES COLLABORATIVE STUDY ON CVS [J].
LEDBETTER, DH ;
ZACHARY, JM ;
SIMPSON, JL ;
GOLBUS, MS ;
PERGAMENT, E ;
JACKSON, L ;
MAHONEY, MJ ;
DESNICK, RJ ;
SCHULMAN, J ;
COPELAND, KL ;
VERLINSKY, Y ;
YANGFENG, T ;
SCHONBERG, SA ;
BABU, A ;
THARAPEL, A ;
DORFMANN, A ;
LUBS, HA ;
RHOADS, GG ;
FOWLER, SE ;
DELACRUZ, F .
PRENATAL DIAGNOSIS, 1992, 12 (05) :317-345
[8]   Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn [J].
Miller, RI ;
Stephan, MJ ;
Hume, RF ;
Walker, WO ;
Kelly, P ;
Calhoun, BC ;
Hoeldtke, NJ ;
Hayden, JE ;
Martin, LS .
FETAL DIAGNOSIS AND THERAPY, 2001, 16 (02) :120-122
[9]   TRISOMY-14 MOSAICISM IN A 2-YEAR OLD GIRL [J].
PETERSEN, MB ;
VEJERSLEV, LO ;
BECK, B .
JOURNAL OF MEDICAL GENETICS, 1986, 23 (01) :86-88
[10]  
ROBINSON WP, 1995, AM J HUM GENET, V56, P444
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