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

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 Aberrant Chromosome 21 Gene Products: Explaining the Down Syndrome Phenotype?

2004 ◽  
Vol 3 (1) ◽  
pp. 1-3 ◽  
Author(s):  
Rosa Ferrando-Miguel ◽  
Myeong Sook Cheon ◽  
Gert Lubec
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Gene Products ◽  
Aberrant Chromosome ◽  
Down Syndrome Phenotype

Mapping of the down syndrome phenotype on chromosome 21 at the molecular level

1994 ◽  
Vol 48 (5-6) ◽  
pp. 247-252 ◽  
Author(s):  
P.M. Sinet ◽  
D. Théophile ◽  
Z. Rahmani ◽  
Z. Chettouh ◽  
J.L. Blouin ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Molecular Level ◽  
Chromosome 21 ◽  
Down Syndrome Phenotype

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

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

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21

2002 ◽  
Vol 44 (01) ◽  
pp. 64 ◽  
Author(s):  
Kim M Keppler-Noreuil ◽  
Judy L Welch ◽  
Heather J Major ◽  
Q Qiau ◽  
Diane K Jordan ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Developmental Delay ◽  
Trisomy 21 ◽  
Down Syndrome Phenotype

No Evidence for Genomic Imprinting in Liver-Born Down Syndrome Patients

1996 ◽  
Vol 45 (1-2) ◽  
pp. 265-271 ◽  
Author(s):  
C. Stoll ◽  
Y. Alembik ◽  
B. Dott ◽  
J. Feingold
Keyword(s):  
Down Syndrome ◽  
Genomic Imprinting ◽  
Extra Chromosome ◽  
Chromosome 21 ◽  
Parental Origin ◽  
Maternal Origin ◽  
Paternal Origin ◽  
Cytogenetic Analyses ◽  
Down Syndrome Phenotype

AbstractDespite numerous studies, the clinical heterogeneity of Down syndrome has no explanation. We have attempted to investigate the role of genomic imprinting in the phenotype of liveborn Down syndrome patients. Hundred fifty eight patients were investigated for parental origin of the extra chromosome 21 with standard cytogenetic analyses and with DNA plymorphic markers. The extra chromosome 21 was of paternal origin in 8 cases and of maternal origin in 150 cases.The phenotype of Down svndrome patients in whom the nondisjunction was of maternal origin, was not different from the phenotype of Down syndrome patients in whom the nondisjunction was of paternal origin.We conclude that imprinting may probably not play a role in the heterogeneity of Down syndrome phenotype.

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