Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion

被引：11

作者：

Brewer, CM

Lam, WWK

Hayward, C

Grace, E

Maher, ER

FitzPatrick, DR

机构：

[1] Western Gen Hosp, Mol Med Ctr, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Univ Birmingham, Div Med Genet, Birmingham B15 2TG, W Midlands, England

[3] RHSC, Reg Cytogenet Lab, Edinburgh EH9 1TF, Midlothian, Scotland

来源：

JOURNAL OF MEDICAL GENETICS | 1998年 / 35卷 / 02期

关键词：

chromosome deletion; chromosome; 18q22.1; Beckwith-Wiedemann syndrome; imprinting;

D O I：

10.1136/jmg.35.2.162

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.

引用

页码：162 / 164

页数：3

共 22 条

[1]

Beckwith, 1963, P ANN M W SOC PED RE

[2]

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome [J].