West syndrome associated with mosaic Down syndrome

2007 ◽  
Vol 29 (7) ◽  
pp. 447-449 ◽  
Author(s):  
Madoka Kajimoto ◽  
Takashi Ichiyama ◽  
Akiko Akashi ◽  
Naoko Suenaga ◽  
Hironori Matsufuji ◽  
...  
Keyword(s):  
Down Syndrome ◽  
West Syndrome ◽  
Mosaic Down Syndrome

Treatment Outcomes of West Syndrome in Infants With Down Syndrome

2013 ◽  
Vol 48 (1) ◽  
pp. 42-47 ◽  
Author(s):  
Oranee Sanmaneechai ◽  
Yoshimi Sogawa ◽  
Wendy Silver ◽  
Karen Ballaban-Gil ◽  
Solomon L. Moshé ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Treatment Outcomes ◽  
West Syndrome

scholarly journals Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn

Children ◽  
2020 ◽  
Vol 7 (6) ◽  
pp. 52
Author(s):  
Zachary Prudowsky ◽  
HyoJeong Han ◽  
Alexandra Stevens
Keyword(s):  
At Risk ◽  
Down Syndrome ◽  
Early Diagnosis ◽  
Early Identification ◽  
Mutation Testing ◽  
Neonatal Complication ◽  
Transient Abnormal Myelopoiesis ◽  
Mosaic Down Syndrome ◽  
Gata1 Mutation

Transient abnormal myelopoiesis (TAM) is a common and potentially fatal neonatal complication of newborn babies with Down syndrome (DS). Children born with mosaic DS are also at risk of developing TAM. However, due to their variable phenotypes, early identification of patients with mosaic DS may be difficult; thus, early diagnosis of TAM is just as challenging. In this report, we describe a case of a phenotypically normal newborn who presented with concerns for neonatal leukemia. The diagnosis of mosaic DS and TAM was confirmed with abnormal GATA1 mutation testing, highlighting the importance of early GATA1 mutation testing in newborn leukemia with high suspicion for TAM.

Mosaic down syndrome in a patient with low-level mosaicism detected by microarray

2010 ◽  
Vol 152A (12) ◽  
pp. 3154-3156 ◽  
Author(s):  
Eyby Leon ◽  
Ying S. Zou ◽  
Jeff M. Milunsky
Keyword(s):  
Down Syndrome ◽  
Low Level ◽  
Mosaic Down Syndrome

Screening for Hematological Disorders in Mosaic Down Syndrome

2015 ◽  
Vol 55 (5) ◽  
pp. 421-427 ◽  
Author(s):  
Stephanie L. Santoro ◽  
Lisa J. Martin ◽  
Robert J. Hopkin
Keyword(s):  
Down Syndrome ◽  
Hematological Disorders ◽  
Mosaic Down Syndrome

scholarly journals Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome

PLoS ONE ◽  
2021 ◽  
Vol 16 (7) ◽  
pp. e0254806
Author(s):  
Kelly Rafferty ◽  
Kellie J. Archer ◽  
Kristi Turner ◽  
Ruth Brown ◽  
Colleen Jackson-Cook
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Chromosomal Instability ◽  
Micronucleus Assay ◽  
Chromosome 21 ◽  
Phenotypic Traits ◽  
Time Interval ◽  
Cellular Changes ◽  
Age Related ◽  
Mosaic Down Syndrome

Down syndrome, which results from a trisomic imbalance for chromosome 21, has been associated with 80+ phenotypic traits. However, the cellular changes that arise in somatic cells due to this aneuploid condition are not fully understood. The primary aim of this study was to determine if germline trisomy 21 is associated with an increase in spontaneous somatic cell chromosomal instability frequencies (SCINF). To achieve this aim, we quantified SCINF in people with mosaic Down syndrome using a cytokinesis-blocked micronucleus assay. By comparing values in their isogenic trisomic/disomic cells, we obtained a measure of differences in SCINF that are directly attributable to a trisomy 21 imbalance, since differential effects attributable to “background” genetic factors and environmental exposures could be eliminated. A cross-sectional assessment of 69 people with mosaic Down syndrome (ages 1 to 44; mean age of 12.84 years) showed a significantly higher frequency of micronuclei in their trisomic (0.37 ± 0.35 [mean ± standard deviation]) compared to disomic cells (0.18 ± 0.11)(P <0.0001). The daughter binucleates also showed significantly higher levels of abnormal patterns in the trisomic (1.68 ± 1.21) compared to disomic (0.35 ± 0.45) cells (P <0.0001). Moreover, a significant Age x Cell Type interaction was noted (P = 0.0113), indicating the relationship between age and SCINF differed between the trisomic and disomic cells. Similarly, a longitudinal assessment (mean time interval of 3.9 years; range of 2 to 6 years) of 18 participants showed a mean 1.63-fold increase in SCINF within individuals over time for their trisomic cells (P = 0.0186), compared to a 1.13-fold change in their disomic cells (P = 0.0464). In summary, these results showed a trisomy 21-associated, age-related increase in SCINF. They also underscore the strength of the isogenic mosaic Down syndrome model system for “unmasking” cellular changes arising from a trisomy 21 imbalance.

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