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

scholarly journals Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Cicchini ◽  
Michael B. Petersen ◽  
Lisbeth Tranebjærg ◽  
Teresa Mattina ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Critical Region ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Human Chromosome 21

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

scholarly journals Disfagia fase oral dan faring pada anak sindrom Down

2018 ◽  
Vol 48 (1) ◽  
pp. 102
Author(s):  
Susyana Tamin ◽  
Elvie Zulka ◽  
Iman Pradana Maryadi ◽  
Rahmanofa Yunizaf
Keyword(s):  
Down Syndrome ◽  
Pediatric Patients ◽  
Partial Trisomy ◽  
Neck Surgery ◽  
Chromosome 21 ◽  
Google Scholar ◽  
Endoscopic Evaluation ◽  
Children With Down Syndrome ◽  
Feeding Difficulty ◽  
Surgery Department

Latar Belakang: Sindrom Down merupakan kelainan kromosom autosomal yang terjadi akibat trisomi seluruh atau sebagian dari kromosom 21, yang terjadi kurang lebih 1 dari 700 kelahiran hidup. Berbagai studi mendapatkan bahwa gangguan makan (feeding difficulty) dan disfagia merupakan masalah yang umum terjadi dan terkadang persisten pada anak sindrom Down. Tujuan: Memaparkan karakteristik kelainan disfagia fase oral dan fase faring yang dapat timbul pada anak dengan sindrom Down menggunakan instrument pemeriksaan Fiberoptic Endoscopic Evaluation of Swallowing (FEES). Laporan kasus: Dilaporkan 8 pasien anak dengan sindrom Down yang didapatkan dari rekam medis pasien sejak Oktober 2016 hingga September 2017, yang dilakukan pemeriksaan FEES di Poli Endoskopi Bronkoesofagologi Departemen Telinga Hidung Tenggorok-Bedah Kepala Leher (THT-KL) Rumah Sakit Dr. Cipto Mangunkusumo. Metode: Pencarian literatur secara terstruktur dilakukan dengan menggunakan Pubmed, ClinicalKey, Cochrane, dan Google scholar, sesuai dengan pertanyaan klinis berupa bagaimana karakteristik disfagia pada pasien anak dengan sindrom Down melalui pemeriksaan FEES. Pemilihan artikel dilakukan berdasarkan kriteria inklusi dan eksklusi. Hasil didapatkan 1 artikel yang relevan. Hasil: Artikel yang didapat merupakan suatu studi retrospektif yang melaporkan gambaran deskriptif karakteristik disfagia pada anak dengan sindrom Down. Kesimpulan: Kelainan anatomis pada sindrom Down berperan pada terjadinya gangguan makan dan disfagia. ABSTRACTBackground: Down syndrome is an autosomal chromosomal disorder caused by entire or partial trisomy of chromosome 21, which occurs in approximately 1 out of 700 live births. Several studies had found that feeding difficulty and swallowing disorder (dysphagia) are common and persistent problems in children with Down syndrome. Purpose: to describe characteristics of abnormalities that can occur in children with Down syndrome using the Fiberoptic Endoscopic Evaluation of Swallowing (FEES) examination. Case report: 8 Pediatric patients with Down syndrome, obtained from medical record of FEES examination in Endoscopic Bronchoesophagology Clinic of Otorhinolaryngology-Head and Neck Surgery Department (ENT-HNS) Cipto Mangunkusumo Hospital, from October 2016 up to September 2017. Method: A structured literature search was performed using Pubmed, ClinicalKey, Cochrane, and Google scholar, according to clinical question of how the characteristics of dysphagia in pediatric patients with Down syndrome through FEES examination? The selection of articles is based on inclusion and exclusion criteria which resulted in 1 relevant paper. Results: The article obtained was a retrospective study reporting descriptive characteristics of dysphagia in children with Down syndrome. Conclusion: Anatomical abnormalities in children with Down syndrome play a role in eating disorders and dysphagia. Keywords:

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.

Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype

2005 ◽  
Vol 37 (S7) ◽  
pp. 110-114 ◽  
Author(s):  
Charles A. Williams ◽  
Jaime L. Frias ◽  
Mary Kay McCormick ◽  
Stylianos E. Antonarakis ◽  
Eduardo S. Cantu
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
Molecular Evaluation ◽  
Down Syndrome Phenotype

Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22)

2012 ◽  
Vol 21 (4) ◽  
pp. 200-203 ◽  
Author(s):  
Emilie Maciejewski ◽  
Jacqueline Vigneron ◽  
Laetitia Lambert ◽  
Céline Bonnet ◽  
Jean-Michel Hascoët
Keyword(s):  
Down Syndrome ◽  
De Novo ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Unbalanced Translocation
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