Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

被引：47

作者：

Karadima, G

Bugge, M

Nicolaidis, P

Vassilopoulos, D

Avramopoulos, D

Grigoriadou, M

Albrecht, B

Passarge, E

Annerén, G

Blennow, E

Clausen, N

Galla-Voumvouraki, A

Tsezou, A

Kitsiou-Tzeli, S

Hahnemann, JM

Hertz, JM

Houge, G

Kuklík, M

Macek, M

Lacombe, D

Miller, K

Moncla, A

Pajares, IL

Patsalis, PC

Prieur, M

Vekemans, M

von Beust, G

Brondum-Nielsen, K

Petersen, MB

机构：

[1] Inst Child Hlth, Dept Genet, Athens, Greece

[2] John F Kennedy Inst, Dept Med Genet, DK-2600 Glostrup, Denmark

[3] Mitera Matern Hosp, Athens, Greece

[4] Eginit Hosp, Dept Neurol, Athens, Greece

[5] Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-4300 Essen, Germany

[6] Uppsala Univ, Childrens Hosp, Dept Clin Genet, Uppsala, Sweden

[7] Karolinska Hosp, Dept Clin Genet, S-10401 Stockholm, Sweden

[8] Aarhus Univ Hosp, Dept Pediat, DK-8000 Aarhus, Denmark

[9] Aglaia Kyriakou Childrens Hosp, Dept Pediat 2, Genet Unit, Athens, Greece

[10] Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus, Denmark

[11] Haukeland Univ Hosp, Dept Med Genet, N-5021 Bergen, Norway

[12] Univ Hosp Motol, Dept Med Genet 2, Prague, Czech Republic

[13] Grp Hosp Pellegrin Enfants, Clin Pediat & Genet Med, Bordeaux, France

[14] Med Hsch Hannover, Abt Humangenet, Hannover, Germany

[15] Hop Enfants La Timone, Ctr Genet Med, F-13385 Marseille, France

[16] Hosp La Paz, Clin Genet Sect, Madrid, Spain

[17] Cyprus Inst Neurol & Genet, Dept Cytogenet, Nicosia, Cyprus

[18] Hop Necker Enfants Malad, Serv Histoembryol & Cytogenet, Paris, France

[19] Univ Gottingen, Inst Humangenet, Zentrum Hyg & Humangenet, D-3400 Gottingen, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1998年 / 6卷 / 05期

关键词：

trisomy; 8; mosaicism; nondisjunction; Warkany syndrome; microsatellites; mitosis; meiosis;

D O I：

10.1038/sj.ejhg.5200212

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

引用

页码：432 / 438

页数：7