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

共 13 条

[11] Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor [J].

Xu, BJ ;

Goulding, EH ;

Zang, KL ;

Cepoi, D ;

Cone, RD ;

Jones, KR ;

Tecott, LH ;

Reichardt, LF .

NATURE NEUROSCIENCE, 2003, 6 (07) :736-742

[12] The role of brain-derived neurotrophic factor receptors in the mature hippocampus: Modulation of long-term potentiation through a presynaptic mechanism involving TrkB [J].

Xu, BJ ;

Gottschalk, W ;

Chow, A ;

Wilson, RI ;

Schnell, E ;

Zang, KL ;

Wang, DA ;

Nicoll, RA ;

Lu, B ;

Reichardt, LF .

JOURNAL OF NEUROSCIENCE, 2000, 20 (18) :6888-6897

[13] A de novo mutation affecting human TrkB associated with severe obesity and developmental delay [J].

Yeo, GSH ;

Hung, CCC ;

Rochford, J ;

Keogh, J ;

Gray, J ;

Sivaramakrishnan, S ;

O'Rahilly, S ;

Farooqi, IS .

NATURE NEUROSCIENCE, 2004, 7 (11) :1187-1189

← 1 2 →