Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1

被引：5

作者：

Knoblauch, H ^{[1
]}

Thiel, G

Tinschert, S

Körner, H

Tennstedt, C

Chaoui, R

Kohlhase, J

Dixkens, C

Blanck, C

机构：

[1] Univ Klinikum Charite, Inst Med Genet, D-10098 Berlin, Germany

[2] Univ Klinikum Charite, Inst Pathol, D-10098 Berlin, Germany

[3] Univ Klinikum Charite, Abt Pranatale Diagnost & Therapie, D-10098 Berlin, Germany

[4] Univ Gottingen, Inst Humangenet, D-37073 Gottingen, Germany

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 05期

关键词：

D O I：

10.1136/jmg.37.5.389

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：389 / 392

页数：4

共 12 条

[1] Rare case of de novo interstitial deletion 2q13q21:: Clinical, cytogenetic, and molecular studies
Eggermann, K
Dufke, A
Enders, H
Kaiser, P
Stötter, M
Eggerman, T
AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (02): : 153 - 154
[2] Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13
Trimborn, M
Wegner, RD
Tönnies, H
Sarioglu, N
Albig, M
Neitzel, H
PRENATAL DIAGNOSIS, 2006, 26 (03) : 273 - 276
[3] De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings
Schuffenhauer, S
Leifheit, HJ
Lichtner, P
Peters, H
Murken, J
Emmerich, P
JOURNAL OF MEDICAL GENETICS, 1999, 36 (03) : 233 - 236
[4] Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene
Sun, Manna
Lou, Jiwu
Li, Qiaoyi
Chen, Jianhong
Li, Yujuan
Li, Dongzhi
Yuan, Haiming
Liu, Yanhui
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2019, 58 (02): : 292 - 295
[5] Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis
Chen, Chih-Ping
Chen, Shin-Wen
Wu, Chao-Yun
Chern, Schu-Rern
Wu, Fang-Tzu
Wu, Peih-Shan
Pan, Yen-Ting
Lee, Chen-Chi
Chen, Li-Feng
Wang, Wayseen
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2023, 62 (01): : 123 - 127
[6] RUNX1-MTG16 fusion gene in de novo acute myeloblastic leukemia with t(16;21)(q24;q22)
Athanasiadou, Anastasia
Stalika, Evagelia
Sidi, Vasiliki
Papaioannou, Maria
Gaitatzi, Maria
Anagnostopoulos, Achilles
LEUKEMIA & LYMPHOMA, 2011, 52 (01) : 145 - 147
[7] Clinical, Cytogenetic and Molecular-Cytogenetic Characterization of a Patient With a De Novo Tandem Proximal-Intermediate Duplication of 16q and Review of the Literature
Lonardo, Fortunato
Perone, Lucia
Maioli, Marianna
Ciavarella, Maria
Ciccone, Roberto
Della Monica, Matteo
Lombardi, Cinzia
Forino, Luisa
Cantalupo, Giuseppina
Masella, Lucia
Scarano, Francesca
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (04) : 769 - 777
[8] Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3′ EWSR1 gene in a patient with Ewing sarcoma
Lee, J
Hopcus-Niccum, DJ
Mulvihill, JJ
Li, S
CANCER GENETICS AND CYTOGENETICS, 2005, 159 (02) : 177 - 180
[9] De Novo Interstitial Deletion of 1q32.2-q32.3 Including the Entire IRF6 Gene in a Patient with Oral Cleft and Other Dysmorphic Features
Salahshourifar, I.
Halim, A. S.
Sulaiman, W. A. W.
Ariffin, R.
Nor, N. Naili Muhamad
Zilfalil, B. A.
CYTOGENETIC AND GENOME RESEARCH, 2011, 134 (02) : 83 - 87
[10] An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient
Lintas, Carla
Sacco, Roberto
Tabolacci, Claudio
Brogna, Claudia
Canali, Marco
Picinelli, Chiara
Tomaiuolo, Pasquale
Castronovo, Paola
Baccarin, Marco
Persico, Antonio M.
MOLECULAR SYNDROMOLOGY, 2018, 9 (05) : 247 - 252

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