scholarly journals Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report

2014 ◽  
Vol 158 (2) ◽  
pp. 321-325 ◽  
Author(s):  
Pavlina Capkova ◽  
Nadezda Misovicova ◽  
Dita Vrbicka
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Phenotype Correlation ◽  
Short Overview ◽  
Genotype Phenotype Correlation ◽  
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

scholarly journals Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases

Genomics ◽  
2017 ◽  
Vol 109 (5-6) ◽  
pp. 391-400 ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Gennari ◽  
Chiara Locatelli ◽  
Allison Piovesan ◽  
Maria Caracausi ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype–phenotype correlation of LMNA variants involving the Arg541 residue: a case report with multimodality imaging and literature review

2020 ◽  
Vol 7 (5) ◽  
pp. 3169-3173
Author(s):  
Andrea Di Marco ◽  
María Ruiz‐Cueto ◽  
Joel Salazar‐Mendiguchía ◽  
Eduard Claver ◽  
Gerard Roura ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Multimodality Imaging ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

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

Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation

2017 ◽  
Vol 173 (10) ◽  
pp. 2743-2746 ◽  
Author(s):  
Gerarda Cappuccio ◽  
Michele Pinelli ◽  
Annalaura Torella ◽  
Marianna Alagia ◽  
Renata Auricchio ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotype Correlation ◽  
Related Disorder ◽  
Genotype Phenotype Correlation

Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature

2013 ◽  
Vol 17 (3) ◽  
pp. 212-218 ◽  
Author(s):  
Kayi Li ◽  
Mary Ann Thomas ◽  
Richard M. Haber
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Cutaneous Manifestation ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Genetic Condition ◽  
Genotype Phenotype Correlation

Background: Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Objective: Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. Methods: We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. Results: To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. Conclusions: The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

Sign in / Sign up

Export Citation Format

Share Document