Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

被引：1

作者：

Oren, Marina S. ^{[1
]}

Camacho, Jenny E. ^{[1
]}

Xie, Hongyan ^{[2
]}

Lowe, Jean ^{[1
]}

Cushing, Tom ^{[1
]}

Clericuzio, Carol ^{[1
]}

Maxwell, Jessie R. ^{[1
,3
]}

机构：

[1] Univ New Mexico, Dept Pediat, Albuquerque, NM 87131 USA

[2] Univ New Mexico, Dept Pathol, Albuquerque, NM 87131 USA

[3] Univ New Mexico, Dept Neurosci, Albuquerque, NM 87131 USA

来源：

CLINICAL CASE REPORTS | 2019年 / 7卷 / 05期

关键词：

congenital heart disease; double outlet right ventricle; myelomeningocele; neural tube defect; recombinant chromosome 8;

D O I：

10.1002/ccr3.2109

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical Message Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required.

引用

页码：898 / 902

页数：5

共 13 条

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