De novo 6.9 Mb Interstitial Deletion on Chromosome 4q31.1-q32.1 in a Girl With Severe Speech Delay and Dysmorphic Features

被引：5

作者：

Fabretto, Antonella ^{[1
]}

Rocca, Maria Santa ^{[1
]}

Perrone, Maria Dolores ^{[1
]}

Skabar, Aldo ^{[2
]}

Pecile, Vanna ^{[1
]}

Gasparini, Paolo ^{[1
]}

机构：

[1] IRCCS Burlo Garofolo, SC Med Genet, Inst Maternal & Child Hlth, I-34137 Trieste, Italy

[2] IRCCS Burlo Garofolo, SC Neuropsychiat, Inst Maternal & Child Hlth, I-34137 Trieste, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 04期

关键词：

del(4)(q31.3-32.1); speech delay; SNPs-Array; TDO2; dysfibrinogenemia; SOLUBLE GUANYLATE-CYCLASE; DISTAL LONG ARM; NEUROPEPTIDE-Y; FUNCTIONAL EXPRESSION; FIBRINOGEN; CLONING; GENE; OBESITY; 4Q;

D O I：

10.1002/ajmg.a.35239

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are interstitial. Here, we report a de novo interstitial deletion resulting in a microdeletion of 6.9Mbinvolving 4q31.3-q32.1 segment, detected by SNPs-Array technique in a 4-year-old female showing severe speech delay, mild facial dysmorphisms, and joint laxity. Phenotype-genotype relationships looking at the genes involved in this part of the chromosome were also carried out and data compared with those previously described. (C) 2012 Wiley Periodicals, Inc.

引用

页码：882 / 887

页数：6

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