A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases

被引:0
作者
Kececi, Hayriye Nermin [1 ]
Basdemirci, Muserref [2 ]
Caksen, Huseyin [1 ]
机构
[1] Necmettin Erbakan Univ, Fac Med, Dept Pediat Genet, TR-42080 Meram, Konya, Turkiye
[2] Konya City Hosp, Dept Med Genet, Med Genet, Konya, Turkiye
关键词
14Q32.33; DELETION;
D O I
10.1097/MCD.0000000000000492
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:90 / 94
页数:5
相关论文
共 13 条
[1]   Clinical and cytogenomic findings in OAV spectrum [J].
Bragagnolo, Silvia ;
Colovati, Mileny E. S. ;
Souza, Malu Z. ;
Dantas, Anelise G. ;
de Soares, Maria F. F. ;
Melaragno, Maria I. ;
Perez, Ana B. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (03) :638-648
[2]   Craniofacial Microsomia [J].
Brandstetter, Kathleyn A. ;
Patel, Krishna G. .
FACIAL PLASTIC SURGERY CLINICS OF NORTH AMERICA, 2016, 24 (04) :495-+
[3]   A Phenotype Map for 14q32.3 Terminal Deletions [J].
Engels, Hartmut ;
Schueler, Herdit M. ;
Zink, Alexander M. ;
Wohlleber, Eva ;
Brockschmidt, Antje ;
Hoischen, Alexander ;
Drechsler, Matthias ;
Lee, Jennifer A. ;
Ludwig, Kerstin U. ;
Kubisch, Christian ;
Schwanitz, Gesa ;
Weber, Ruthild G. ;
Leube, Barbara ;
Hennekam, Raoul C. M. ;
Rudnik-Schoeneborn, Sabine ;
Kreiss-Nachtsheim, Martina ;
Reutter, Heiko .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) :695-706
[4]   Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia [J].
Geier, Christoph B. ;
Piller, Alexander ;
Eibl, Martha M. ;
Ciznar, Peter ;
Ilencikova, Denisa ;
Wolf, Hermann M. .
CLINICAL IMMUNOLOGY, 2017, 183 :41-45
[5]   Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia [J].
Gimelli, S. ;
Cuoco, C. ;
Ronchetto, P. ;
Gimelli, G. ;
Tassano, E. .
JOURNAL OF APPLIED GENETICS, 2013, 54 (03) :361-365
[6]  
Gorlin RJ., 1990, Syndromes of the Head and Neck, V3rd ed
[7]   Genome-Wide Scanning Reveals Complex Etiology of Oculo-Auriculo-Vertebral Spectrum [J].
Huang, Xue-shuang ;
Li, Xin ;
Tan, Can ;
Xiao, Ling ;
Jiang, Hai-ou ;
Zhang, Shu-fang ;
Wang, Dun-mei ;
Zhang, Jian-xiang .
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2010, 222 (04) :311-318
[8]   History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype? [J].
Jezela-Stanek, Aleksandra ;
Kucharczyk, Marzena ;
Gutkowska, Anna ;
Pelc, Magdalena ;
Ciara, Elzbieta ;
Chrzanowska, Krystyna H. ;
Krajewska-Walasek, Malgorzata .
CLINICAL DYSMORPHOLOGY, 2012, 21 (02) :97-100
[9]   Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome [J].
Kelberman, D ;
Tyson, J ;
Chandler, DC ;
McInerney, AM ;
Slee, J ;
Albert, D ;
Aymat, A ;
Botma, M ;
Calvert, M ;
Goldblatt, J ;
Haan, EA ;
Laing, NG ;
Lim, J ;
Malcolm, S ;
Singer, SL ;
Winter, RM ;
Bitner-Glindzicz, M .
HUMAN GENETICS, 2001, 109 (06) :638-645
[10]   Terminal 14q32.33 deletion: Genotype-phenotype correlation [J].
Maurin, M. -L. ;
Brisset, S. ;
Le Lorc'h, M. ;
Poncet, V. ;
Trioche, P. ;
Aboura, A. ;
Labrune, P. ;
Tachdjian, G. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (21) :2324-2329