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Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter

✍ Scribed by Angel Chao; Yun-Shien Lee; An-Shine Chao; Tzu-Hao Wang; Shuenn-Dyh Chang

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
241 KB
Volume
76
Category
Article
ISSN
1542-0752

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✦ Synopsis

Background:

Wolf-hirschhorn syndrome (whs), caused by the deletion of a segment in chromosome 4, is characterized by mental and developmental defects. clinical manifestations of whs include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "greek helmet" facial appearance, cleft lip and palate, mental deficiency, and seizures.

Case:

We present a case of whs with prenatal conventional cytogenetics of 46,xy,der(4)t(4;13)(p15.3;p11.2)pat. high-resolution mapping using microarray-based comparative genomic hybridization (array-cgh), including affymetrix 10k arrays and cdna microarrays, confirmed the loss of genes in the deleted region.

Conclusions:

The correlation between these candidate genes and the phenotypes of whs may expand our understanding of the defective development caused by 4p deletion.

📜 SIMILAR VOLUMES

?Tandem? duplication of 4p16.1p16.3 chro
?Tandem? duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype
✍ Zollino, M.; Wright, T.J.; Di Stefano, C.; Tosolini, A.; Battaglia, A.; Altherr, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 1 views

Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre-and post-natal growth retardation, anteverted and low-set ears, that can be considered as no