Fetal facial profile in Pallister-Killian syndrome

被引：13
作者：
Liberati, Marco
Melchiorre, Karen
D'Emilio, Ilenia
Guanciali-Franchi, Paolo Emilio
Iezzi, Irene
Rotmensch, Sigfried
Celentano, Claudio
机构：
[1] Univ G dAnnunzio, Sch Med, Dept Med, Sect Obstet & Gynecol, Chieti, Italy
[2] Univ G dAnnunzio, Sch Med, Dept Med, Inst Med Genet, Chieti, Italy
[3] Tel Aviv Univ, Sackler Sch Med, Edith Wolfson Med Ctr, Dept Obstet & Gynecol, IL-69978 Tel Aviv, Israel
来源：
FETAL DIAGNOSIS AND THERAPY | 2008年 / 23卷 / 01期
关键词：
Pallister-Killian syndrome; prenatal diagnosis; maternal serum screening;
D O I：
10.1159/000109220
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
Pallister-Killian syndrome (PKS) is a sporadic chromosomal anomaly, caused by a tissue-specific mosaic distribution of an additional isochromosome 12p. About 60 cases of prenatal diagnosis of PKS have been reported. Only 1 case of PKS is described on the basis of prenatal screening, presenting increased nuchal translucency. An abnormal fetal facial profile is described prenatally as sonographic evidence of PKS. We report a case of prenatal diagnosis in a fetus undergoing second-level scan due to positive triple screen with ultrasound features of PKS. Copyright (C) 2007 S. Karger AG, Basel.
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收藏
页码：15 / 17
页数：3
相关论文
共 11 条
[1]   ELEVATED MATERNAL SERUM HUMAN CHORIONIC-GONADOTROPIN IN 2 CASES OF FETAL VENTRAL WALL DEFECTS [J].
BARNES, I ;
AMIEL, A ;
FEJGIN, MD .
PRENATAL DIAGNOSIS, 1992, 12 (01) :76-77
[2]   PRENATAL-DIAGNOSIS OF DIVERSE CHROMOSOME-ABNORMALITIES IN A POPULATION OF PATIENTS IDENTIFIED BY TRIPLE-MARKER TESTING AS SCREEN POSITIVE FOR DOWN-SYNDROME [J].
BENN, PA ;
HORNE, D ;
BRIGANTI, S ;
GREENSTEIN, RM .
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1995, 173 (02) :496-501
[3]   ABNORMAL MATERNAL SERUM CHORIONIC-GONADOTROPIN LEVELS IN PREGNANCIES WITH FETAL CHROMOSOME-ABNORMALITIES [J].
BOGART, MH ;
PANDIAN, MR ;
JONES, OW .
PRENATAL DIAGNOSIS, 1987, 7 (09) :623-630
[4]   TISSUE-SPECIFIC MOSAICISM AMONG FETUSES WITH PRENATALLY DIAGNOSED DIAPHRAGMATIC-HERNIA [J].
DONNENFELD, AE ;
CAMPBELL, TJ ;
BYERS, J ;
LIBRIZZI, RJ ;
WEINER, S .
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1993, 169 (04) :1017-1021
[5]   Pallister-Killian syndrome: difficulties of prenatal diagnosis [J].
Doray, B ;
Girard-Lemaire, F ;
Gasser, B ;
Baldauf, JJ ;
de Geeter, B ;
Spizzo, M ;
Zeidan, C ;
Flori, E .
PRENATAL DIAGNOSIS, 2002, 22 (06) :470-477
[6]  
Langford K, 2000, PRENATAL DIAG, V20, P670, DOI 10.1002/1097-0223(200008)20:8<670::AID-PD885>3.0.CO
[7]  
2-U
[8]  
Paladini D, 2000, PRENATAL DIAG, V20, P996, DOI 10.1002/1097-0223(200012)20:12<996::AID-PD951>3.0.CO
[9]  
2-0
[10]   ISOCHROMOSOME 12P MOSAICISM (PALLISTER MOSAIC ANEUPLOIDY OR PALLISTER-KILLIAN SYNDROME) - REPORT OF 11 CASES [J].
REYNOLDS, JF ;
DANIEL, A ;
KELLY, TE ;
GOLLIN, SM ;
STEPHAN, MJ ;
CAREY, J ;
ADKINS, WN ;
WEBB, MJ ;
CHAR, F ;
JIMENEZ, JF ;
OPITZ, JM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (02) :257-274
12