down syndrome phenotype
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Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype

2020 ◽  
Vol 63 (4) ◽  
pp. 103824
Author(s):  
Takako Takano ◽  
Kazuhiko Nakabayashi ◽  
Hideomi Ota ◽  
Yasuhiro Arai ◽  
Hiromi Kamura ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Female Patient ◽  
Down Syndrome Phenotype

scholarly journals Sensory Processing and Maladaptive Behavior: Profiles Within the Down Syndrome Phenotype

2019 ◽  
Vol 39 (5) ◽  
pp. 461-476 ◽  
Author(s):  
Elizabeth A. Will ◽  
Lisa A. Daunhauer ◽  
Deborah J. Fidler ◽  
Nancy Raitano Lee ◽  
Cordelia Robinson Rosenberg ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Sensory Processing ◽  
Maladaptive Behavior ◽  
Behavior Profiles ◽  
Down Syndrome Phenotype

scholarly journals Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Franziska Schnabel ◽  
Mateja Smogavec ◽  
Rudolf Funke ◽  
Silke Pauli ◽  
Peter Burfeind ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21Q22 ◽  
Down Syndrome Phenotype

Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3

2017 ◽  
Vol 173 (12) ◽  
pp. 3153-3157
Author(s):  
Manesha Putra ◽  
Urvashi Surti ◽  
Jie Hu ◽  
Deana Steele ◽  
Michele Clemens ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Partial Monosomy ◽  
Down Syndrome Phenotype ◽  
Isodicentric Chromosome

Partial trisomy of chromosome 21 without the Down syndrome phenotype

2016 ◽  
Vol 36 (5) ◽  
pp. 492-495 ◽  
Author(s):  
Mei-Tsz Su ◽  
Long-Ching Kuan ◽  
Yen-Yin Chou ◽  
Shang-Yi Tan ◽  
Tsung-Cheng Kuo ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Down Syndrome Phenotype

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype

Gene ◽  
2014 ◽  
Vol 536 (2) ◽  
pp. 441-443 ◽  
Author(s):  
I. Papoulidis ◽  
E. Papageorgiou ◽  
E. Siomou ◽  
E. Oikonomidou ◽  
L. Thomaidis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
7Q Deletion ◽  
Down Syndrome Phenotype
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