Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1

2014 ◽  
Vol 164 (7) ◽  
pp. 1789-1794 ◽  
Author(s):  
Mercedes Bloch ◽  
Anissa Leonard ◽  
Andreas A. Diplas ◽  
Xavier Pepermans ◽  
Beverly S. Emanuel ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Phenotype Description

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

2017 ◽  
Vol 26 (4) ◽  
pp. 231-234
Author(s):  
Marie-Laure Vuillaume ◽  
Anna-Gaelle Valard ◽  
Nada Houcinat ◽  
Julie Bouron ◽  
Cécile Boucher ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Osteopathia Striata ◽  
Cranial Sclerosis

scholarly journals De novo interstitial deletion in the long arm of chromosome 11: a case report

2016 ◽  
Vol 15 (2) ◽  
Author(s):  
L.L. Li ◽  
H.G. Zhang ◽  
X.G. Shao ◽  
J.C. Gao ◽  
H.Y. Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Interstitial Deletion ◽  
Chromosome 11

scholarly journals Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene

2019 ◽  
Vol 58 (2) ◽  
pp. 292-295 ◽  
Author(s):  
Manna Sun ◽  
Jiwu Lou ◽  
Qiaoyi Li ◽  
Jianhong Chen ◽  
Yujuan Li ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Molecular Cytogenetic ◽  
Cytogenetic Analyses

scholarly journals De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2–4q31.1

1991 ◽  
Vol 36 (2) ◽  
pp. 149-153 ◽  
Author(s):  
Keiko Wakui ◽  
Toshiro Nishida ◽  
Jun-ichiro Masuda ◽  
Takeshi Itoh ◽  
Daisuke Katsumata ◽  
...  
Keyword(s):  
Blood Group ◽  
De Novo ◽  
Interstitial Deletion

scholarly journals De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).

1991 ◽  
Vol 28 (8) ◽  
pp. 539-540 ◽  
Author(s):  
M Yoshino ◽  
Y Watanabe ◽  
N Harada ◽  
K Abe
Keyword(s):  
De Novo ◽  
Interstitial Deletion

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

1995 ◽  
Vol 55 (1) ◽  
pp. 30-32 ◽  
Author(s):  
Michael L. Levin ◽  
Lisa G. Shaffer ◽  
Richard A. Lewis ◽  
Mary V. Gresik ◽  
James R. Lupski
Keyword(s):  
Congenital Anomalies ◽  
De Novo ◽  
Interstitial Deletion ◽  
Chromosome 17 ◽  
Multiple Congenital Anomalies

scholarly journals Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion

2016 ◽  
Vol 3 ◽  
pp. 2329048X1667615 ◽  
Author(s):  
Roberta Milone ◽  
Anna Rita Ferrari ◽  
Rosa Pasquariello ◽  
Stefania Bargagna
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Complex Phenotype

scholarly journals Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).

1991 ◽  
Vol 28 (4) ◽  
pp. 282-283 ◽  
Author(s):  
J P Park ◽  
J B Moeschler ◽  
S Z Berg ◽  
D H Wurster-Hill
Keyword(s):  
Mental Retardation ◽  
Adult Male ◽  
De Novo ◽  
Interstitial Deletion
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