A Novel 5q11.2 Microdeletion in a Child with Mild Developmental Delay and Dysmorphic Features

被引:4
作者
Fontana, Paolo [1 ]
Tortora, Cristina [1 ]
Petillo, Roberta [2 ]
Falco, Mariateresa [1 ]
Miniero, Martina [1 ]
De Brasi, Davide [3 ]
Pisanti, Maria Antonietta [3 ]
机构
[1] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Via Pansini 5, Naples, Italy
[2] Univ Naples 2, Dept Expt Med Cardiomiol & Med Genet, Naples, Italy
[3] Cardarelli Hosp, Serv Med Genet, Naples, Italy
关键词
5q11.2; deletion; syndrome; developmental delay; short stature; 22Q11 DELETION SYNDROME;
D O I
10.1002/ajmg.a.37824
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). (C) 2016 Wiley Periodicals, Inc.
引用
收藏
页码:2445 / 2448
页数:4
相关论文
共 7 条
[1]   Definition of 5q11.2 Microdeletion Syndrome Reveals Overlap with CHARGE Syndrome and 22q11 Deletion Syndrome Phenotypes [J].
Blok, Charlotte Snijders ;
Corsten-Janssen, Nicole ;
FitzPatrick, David R. ;
Romano, Corrado ;
Fichera, Marco ;
Vitello, Girolamo Aurelio ;
Willemsen, Marjolein H. ;
Schoots, Jeroen ;
Pfundt, Rolph ;
van Ravenswaaij-Arts, Conny M. A. ;
Hoefsloot, Lies ;
Kleefstra, Tjitske .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (11) :2843-2848
[2]   5q11.2 deletion in a patient with tracheal agenesis [J].
de Jong, Elisabeth M. ;
Douben, Hannie ;
Eussen, Bert H. ;
Felix, Janine F. ;
Wessels, Marja W. ;
Poddighe, Pino J. ;
Nikkels, Peter G. J. ;
de Krijger, Ronald R. ;
Tibboel, Dick ;
de Klein, Annelies .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (11) :1265-1268
[3]   The murine G+C-rich promoter binding protein mGPBP is required for promoter-specific transcription [J].
Hsu, LC ;
Liu, S ;
Abedinpour, F ;
Beech, RD ;
Lahti, JM ;
Kidd, VJ ;
Greenspan, JA ;
Yeung, CY .
MOLECULAR AND CELLULAR BIOLOGY, 2003, 23 (23) :8773-8785
[4]   A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome [J].
Prescott, K ;
Woodfine, K ;
Stubbs, P ;
Super, M ;
Kerr, B ;
Palmer, R ;
Carter, NP ;
Scambler, P .
HUMAN GENETICS, 2005, 116 (1-2) :83-90
[5]   SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1 [J].
Rebsamen, Manuele ;
Pochini, Lorena ;
Stasyk, Taras ;
de Araujo, Mariana E. G. ;
Galluccio, Michele ;
Kandasamy, Richard K. ;
Snijder, Berend ;
Fauster, Astrid ;
Rudashevskaya, Elena L. ;
Bruckner, Manuela ;
Scorzoni, Stefania ;
Filipek, Przemyslaw A. ;
Huber, Kilian V. M. ;
Bigenzahn, Johannes W. ;
Heinz, Leonhard X. ;
Kraft, Claudine ;
Bennett, Keiryn L. ;
Indiveri, Cesare ;
Huber, Lukas A. ;
Superti-Furga, Giulio .
NATURE, 2015, 519 (7544) :477-+
[6]   Novel microdeletion syndromes detected by chromosome microarrays [J].
Slavotinek, Anne M. .
HUMAN GENETICS, 2008, 124 (01) :1-17
[7]   Microdeletion and Microduplication Syndromes [J].
Weise, Anja ;
Mrasek, Kristin ;
Klein, Elisabeth ;
Mulatinho, Milene ;
Llerena, Juan C., Jr. ;
Hardekopf, David ;
Pekova, Sona ;
Bhatt, Samarth ;
Kosyakova, Nadezda ;
Liehr, Thomas .
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 2012, 60 (05) :346-358