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

Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome

2007 ◽  
Vol 7 (3) ◽  
pp. 215-218 ◽  
Author(s):  
Frenny J Sheth ◽  
Uppala Radhakrishna ◽  
Michael A Morris ◽  
Jean-Louis Blouin ◽  
Jayesh J Sheth ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Affected Patient ◽  
Isodicentric Chromosome

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

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.

scholarly journals Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

2008 ◽  
Vol 17 (4) ◽  
pp. 454-466 ◽  
Author(s):  
Robert Lyle ◽  
Frédérique Béna ◽  
Sarantis Gagos ◽  
Corinne Gehrig ◽  
Gipsy Lopez ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Partial Monosomy

scholarly journals The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21

2020 ◽  
Vol 12 (3) ◽  
pp. 270-275
Author(s):  
Koji Obara ◽  
Tsuyoshi Imota ◽  
Shigeo Mamiya ◽  
Itaru Toyoshima
Keyword(s):  
Down Syndrome ◽  
Epileptic Seizures ◽  
The Elderly ◽  
Sudden Onset ◽  
Chromosome 21 ◽  
Upper Body ◽  
First Line Therapy ◽  
Eeg Recordings ◽  
Video Eeg ◽  
Isodicentric Chromosome

Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down syndrome experienced sudden onset of drowsiness and frequent myoclonic jerks in the upper body. Video-EEG recordings demonstrated generalized polyspike-wave discharges consistent with myoclonic jerks, which were exacerbated by photo-stimulation. Her myoclonus completely resolved with perampanel administration. Perampanel was effective for myoclonic seizures in our patient. We suggest that perampanel is an option as first-line therapy for epilepsy and myoclonus in elderly Down syndrome patients.

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