Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism

被引:13
作者
Terhal, PA
Sakkers, R
Hochstenbach, R
Madan, K
Rabelink, G
Sinke, R
Giltay, J
机构
[1] Univ Utrecht, Med Ctr, Dept Biomed Genet, NL-3508 TC Utrecht, Netherlands
[2] Univ Utrecht, Med Ctr, Dept Orthoped Surg, NL-3508 TC Utrecht, Netherlands
[3] VU Univ, Med Ctr, Dept Clin Genet & Human Genet, Amsterdam, Netherlands
来源
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 130A卷 / 04期
关键词
trisomy; 17; mosaicism; cerebellar hypoplasia; zonular cataract;
D O I
10.1002/ajmg.a.30124
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Trisomy 17 mosaicism. in liveborns is an extremely rare chromosomal abnormality, with only three cases reported in the literature. Here we describe a 7-year-old boy with trisomy 17 mosaicism. The chromosome abnormality was detected by amniocentesis and was confirmed postnatally in cultured skin fibroblasts. The main clinical features were mental retardation and growth reduction, peripheral motor and sensory neuropathy, hypoplastic cerebellar vermis, zonular cataract, and body asymmetry. In our patient, and in the three earlier described cases, the additional chromosome 17 was detected in skin fibroblasts, not in peripheral lymphocytes. Molecular investigations excluded uniparental disomy of chromosome 17 in our patient. The extra chromosome 17 probably originated from a postzygotic mitotic nondisjunction of the maternal chromosome 17. In most cases of trisomy 17 mosaicism detected in amniocytes the chromosome abnormality seems to be confined to extra-embryonic tissues and clinically normal children are born. If, however, there are also ultrasound abnormalities, the possibility of fetal trisomy 17 mosaicism should certainly be considered. If postnatal karyotyping is limited to blood the diagnosis of trisomy 17 mosaicism could easily be missed. Therefore, we recommend chromosome analysis to be based on cultured skin fibroblasts in all cases where mental retardation is accompagnied by postnatal growth retardation, body asymmetry, peripheral neuropathy, and cerebellar hypoplasia or zonular cataract. (C) 2004 Wiley-Liss, Inc.
引用
收藏
页码:410 / 414
页数:5
相关论文
共 26 条
[1]   46,XY/47,XY,+17 MOSAICISM IN A NEWBORN WITH SEVERE MALFORMATIONS [J].
BULLERDIEK, J ;
BARTNITZKE, S .
HUMAN GENETICS, 1982, 60 (03) :296-296
[2]   Trisomy 17 detected in amniotic fluid cells but not in newborn infant [J].
Butler, MG ;
Neu, RL ;
Mitchell, K .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 65 (03) :247-248
[3]  
Butler MG, 1999, PRENATAL DIAG, V19, P689, DOI 10.1002/(SICI)1097-0223(199907)19:7<689::AID-PD592>3.0.CO
[4]  
2-8
[5]   MOSAIC TRISOMY-17 IN AMNIOTIC-FLUID CELLS NOT CONFIRMED IN THE NEWBORN [J].
DJALALI, M ;
BARBI, G ;
GRAB, D .
PRENATAL DIAGNOSIS, 1991, 11 (06) :399-402
[6]  
Djalali M, 1998, PRENATAL DIAG, V18, P1191, DOI 10.1002/(SICI)1097-0223(199811)18:11<1191::AID-PD417>3.0.CO
[7]  
2-X
[8]   Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies [J].
Genuardi, M ;
Tozzi, C ;
Pomponi, MG ;
Stagni, ML ;
Della Monica, M ;
Scarano, G ;
Calvieri, F ;
Torrisi, L ;
Neri, G .
EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (04) :421-426
[9]   Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite [J].
Giltay, JC ;
Brunt, T ;
Beemer, FA ;
Wit, JM ;
van Amstel, HKP ;
Pearson, PL ;
Wijmenga, C .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :937-940
[10]  
Hsu LYF, 1997, PRENATAL DIAG, V17, P201, DOI 10.1002/(SICI)1097-0223(199703)17:3<201::AID-PD56>3.0.CO