نتایج جستجو برای: trisomy of 21

تعداد نتایج: 21198882  

2014
Meagan Smith Kimberly M Lewis Alexandrea Holmes Jeannie Visootsak

Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order to guide patients in making an informed decision. H...

Journal: :Ultrasound in Obstetrics & Gynecology 2020

Journal: :Arquivos de Neuro-Psiquiatria 1995

2005
Cyrus Cyril

Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa–trypsin-banding technique. Fifty-five individuals (91%) exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-old child, the second-born of non-consanguineous parents, possessed an ...

Journal: :Journal of pediatric hematology/oncology 2005
Isis Quezado Magalhães Alessandra Splendore Mariana Emerenciano Mara Santos Córdoba Jose Carlos Córdoba Paula Azevedo Allemand Iris Ferrari Maria S Pombo-de-Oliveira

Transient myeloproliferative disorder is a form of self-limited leukemia that occurs almost exclusively in neonates with Down syndrome. The authors report an unusual case of a newborn without constitutional trisomy 21 who developed undifferentiated leukemia and subsequently achieved clinical and molecular remission without chemotherapy. Cytogenetics and molecular analysis have shown trisomy 21 ...

Journal: :Cytogenetic and genome research 2005
S L Sherman S B Freeman E G Allen N E Lamb

The leading cause of Down syndrome (DS) is nondisjunction of chromosome 21 occurring during the formation of gametes. In this review, we discuss the progress made to identify risk factors associated with this type of chromosome error occurring in oogenesis and spermatogenesis. For errors occurring in oocytes, the primary risk factors are maternal age and altered recombination. We review the cur...

Journal: :The Journal of Heart and Lung Transplantation 2021

Journal: :Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 1995

Journal: :Journal of Medical Genetics 1992

Journal: :Annals of Saudi Medicine 2007

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