When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication

被引：3

作者：

Travan, Laura ^{[1
]}

Rocca, Maria Santa ^{[1
]}

Buonomo, Francesca ^{[1
]}

Cleva, Lisa ^{[1
]}

Pecile, Vanna ^{[1
]}

De Cunto, Angela ^{[1
]}

机构：

[1] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Via Istria 65-1, I-34137 Trieste, Italy

来源：

JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS | 2015年 / 3卷 / 01期

关键词：

trisomy; 9q; SNP array analysis; duplication; NTRK2;

D O I：

10.1177/2324709615574949

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Chromosomal abnormalities may cause growth failure before or since birth. 9q duplication is reported as a cause of intrauterine growth restriction, mild dysmporphism, and intellectual disabilities. We report a case of a maternally inherited 9q21.31q21.33 duplication causing prenatal and postnatal growth restriction with feeding refusal and mild facial dysmorphisms, prenatally diagnosed by single-nucleotide polymorphism array analysis. Hypothesis of the possible pathogenic mechanisms are discussed.

引用

页码：1 / 3

页数：3

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