A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum

被引：0

作者：

Udo Koehler

Elke Holinski-Feder

Birgit Ertl-Wagner

Juergen Kunz

Arpad von Moers

Hubertus von Voss

Chayim Schell-Apacik

机构：

[1] Medizinisch Genetisches Zentrum München,

[2] Institute of Medical Molecular Diagnostics,undefined

[3] Institute of Clinical Radiology,undefined

[4] Klinikum Großhadern,undefined

[5] Ludwig-Maximilians-University,undefined

[6] Institute of Social Pediatrics and Adolescent Medicine of the Ludwig-Maximilians-University,undefined

[7] DRK Children’s Hospital,undefined

[8] Practice of Human Genetics,undefined

来源：

European Journal of Pediatrics | 2010年 / 169卷

关键词：

Hypoplasia of the corpus callosum; Dysmorphic features; Microdeletion; Chromosome 1p31.3p32.2; gene;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Interstitial deletions or apparently balanced translocations involving bands 1p31 and 1p32 in the short arm of chromosome 1 are rarely described chromosomal imbalances. To our knowledge, there have been six cases documented to date. Five of these cases, where the NFIA gene is involved, show complex central nervous system malformations and in some cases urinary tract defects. We report another case of a microdeletion with involvement of the NFIA gene in the short arm of chromosome 1 (del(1)(p31.3p32.2)) with, amongst other features, hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features. A microdeletion 1p31.3p32.2 which includes the NFIA gene is associated with hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features.

引用

页码：463 / 468

页数：5

共 44 条

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