A de novo
 complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly

De Novo ◽

Mild Mental Retardation ◽

A de novo 3p13 deletion induced by a complex chromosomal rearrangement combined with a pericentric inversion of chromosome, inv(3)(p13q12), and a translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2), in a child with developmental delay

Genes & Genomics ◽

10.1007/s13258-016-0470-y ◽

2016 ◽

Vol 39 (2) ◽

pp. 121-126

Author(s):

Kye Hee Cho ◽

Sung Han Shim ◽

MinYoung Kim

Keyword(s):

Developmental Delay ◽

Pericentric Inversion ◽

De Novo ◽

Chromosome 3 ◽

Erratum to: A de novo 3p13 deletion induced by a complex chromosomal rearrangement combined with a pericentric inversion of chromosome 3, inv(3)(p13q12), and a translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2), in a child with developmental delay

Genes & Genomics ◽

10.1007/s13258-016-0503-6 ◽

2016 ◽

Vol 39 (2) ◽

pp. 243-243

Author(s):

Kye Hee Cho ◽

Sung Han Shim ◽

MinYoung Kim

Keyword(s):

Developmental Delay ◽

Pericentric Inversion ◽

De Novo ◽

Chromosome 3 ◽

A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.62238 ◽

2021 ◽

Author(s):

Alice P. Rogers ◽

Kathryn Friend ◽

Lesley Rawlings ◽

Christopher P. Barnett

Keyword(s):

Short Stature ◽

Developmental Delay ◽

De Novo ◽

Missense Variant ◽

Global Developmental Delay ◽

Facial Dysmorphism

Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2021.01.013 ◽

2021 ◽

Vol 60 (2) ◽

pp. 341-344

Author(s):

Chih-Ping Chen ◽

Schu-Rern Chern ◽

Peih-Shan Wu ◽

Shin-Wen Chen ◽

Fang-Tzu Wu ◽

...

Keyword(s):

Mental Retardation ◽

Developmental Delay ◽

Congenital Heart Defects ◽

Congenital Heart ◽

De Novo ◽

Heart Defects ◽

Molecular Cytogenetic ◽

Cytogenetic Characterization ◽

Chromosome 1Q41

A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity

Journal of Medical Genetics ◽

10.1136/jmg.37.11.892 ◽

2000 ◽

Vol 37 (11) ◽

pp. 892-896

Author(s):

W. EMBERGER

Keyword(s):

Early Onset ◽

De Novo ◽

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2011.11.004 ◽

2012 ◽

Vol 55 (2) ◽

pp. 117-119 ◽

Cited By ~ 13

Author(s):

M.D. Perrone ◽

M.S. Rocca ◽

I. Bruno ◽

F. Faletra ◽

V. Pecile ◽

...

Keyword(s):

Mental Retardation ◽

Short Stature ◽

De Novo ◽

Interstitial Deletion

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Molecular Cytogenetics ◽

10.1186/s13039-016-0251-y ◽

2016 ◽

Vol 9 (1) ◽

Cited By ~ 4

Author(s):

Bobo Xie ◽

Xin Fan ◽

Yaqin Lei ◽

Rongyu Chen ◽

Jin Wang ◽

...

Keyword(s):

Short Stature ◽

Developmental Delay ◽

De Novo ◽

Dysmorphic Features ◽

Nf1 Gene

Molecular characterization of complex chromosomal rearrangement: First report of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2 case

Pathology - Research and Practice ◽

10.1016/j.prp.2014.08.015 ◽

2014 ◽

Vol 210 (12) ◽

pp. 1090-1094 ◽

Cited By ~ 1

Author(s):

Firoz Ahmad ◽

Rupa Dalvi ◽

Swarna Mandava ◽

Bibhu R. Das

Keyword(s):

Molecular Characterization ◽

De Novo ◽

Complex Karyotype ◽

First Report ◽

Complex Chromosomal Rearrangement ◽

De Novo Aml

Advanced paternal age and de-novo complex chromosomal rearrangement in offspring

Human Reproduction ◽

10.1093/humrep/13.7.1801 ◽

1998 ◽

Vol 13 (7) ◽

pp. 1801-1803 ◽

Cited By ~ 5

Author(s):

B. Benzacken ◽

J. P. Siffroi ◽

B. Straub ◽

C. Le Bourhis ◽

S. Sauvion ◽

...

Keyword(s):

De Novo ◽

Paternal Age ◽

Advanced Paternal Age ◽

De novo complex chromosomal rearrangement of 46, XY, t (3; 16; 8) (p26; q13; q21.2) in a non-obstructive azoospermic male

Journal of Applied Genetics ◽

10.1007/bf03194664 ◽

2007 ◽

Vol 48 (1) ◽

pp. 93-94 ◽

Cited By ~ 5

Author(s):

Iman Salahshourifar ◽

Mohammad Ali Sedighi Gilani ◽

Ahmad Vosough ◽

Tayebeh Tavakolzadeh ◽

Masoumeh Tahsili ◽

...

Keyword(s):

De Novo ◽