نتایج جستجو برای: monosomy 21

تعداد نتایج: 249214  

2011
Anna Del Fabro Lorenza Driul Omar Anis Ambrogio P Londero Serena Bertozzi Livio Bortotto Diego Marchesoni

BACKGROUND The purpose of this study was to evaluate the gender ratio and incidence of chromosomal anomalies in the products of conception (POC) from recurrent miscarriages. METHODS We determined the karyotypes of POC from patients with recurrent spontaneous miscarriages between 1999 and 2009. RESULTS In total, 313 specimens were successfully karyotyped, with a median gestational age of 10 ...

2014
Sook Young Jung Joo Won Park Dong Hyun Kim Yong Hoon Jun Jeong Seop Lee Ji Eun Lee

Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndro...

2016
Thomas Bogs Florian Kipfmüller Nicolai Kohlschmidt Ulrich Gembruch Andreas Müller Heiko Reutter

BACKGROUND Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). CASE PRESENTATION We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agene...

Journal: :Archives of ophthalmology 2007
Carol L Shields Arupa Ganguly Miguel A Materin Luiz Teixeira Arman Mashayekhi Lori Ann Swanson Brian P Marr Jerry A Shields

OBJECTIVE To evaluate the feasibility of genetic testing of uveal melanoma using fine-needle aspiration biopsy (FNAB). METHODS We reviewed the clinical records of all patients of the Ocular Oncology Service at Wills Eye Hospital with the diagnosis of uveal melanoma who underwent FNAB for genetic testing for chromosome 3 status between November 1, 2005, and March 1, 2006. The FNAB was performe...

Journal: :Journal of Medical Genetics 1986

Journal: :Cancer research 2003
Paola Parrella Vito M Fazio Antonietta P Gallo David Sidransky Shannath L Merbs

To identify minimal common areas of allelic loss on chromosome 3, we have mapped both arms of the chromosome in 21 uveal melanomas that did not show monosomy 3 in our previous allelotype study. DNA was isolated from microdissected paraffin sections and amplified by PCR. In an initial screening, 14 microsatellite markers on chromosomal arm 3p and 13 on chromosomal arm 3q were used. Loss of heter...

Journal: :Circulation. Cardiovascular genetics 2012
Kim L McBride Stephanie M Ware

Congenital cardiovascular malformations (CVMs) are the most common birth defect, affecting approximately 8 per 1000 live births. Roughly 25% of CVMs occur in the context of multiple congenital anomalies or as part of a genetic syndrome, while the other 75% of individuals present as an isolated, nonsyndromic CVM.1 Genomic disorders comprise the majority of syndomic CVMs, exemplified by aneuploid...

2009

1. The chromosomal abnormality in Down's syndrome is A. Trisomy 18 B. Trisomy 21 C. 47 XXY D. Monosomy X 2. The commonest congenital cardiovascular abnormality in Down's syndrome is A. Patent ductus arteriosus B. Coarctation of aorta C. Tetralogy of Fallot D. Atrioventricular septal defect 3. A smaller tracheal tube may be required in Down's syndrome due to: A. Inadequate mouth opening B. Sub-g...

2014
Jessica Bots Clara M. A. ten Broek Jeroen A. M. Belien Marianna Bugiani Frietson Galis Stefan Van Dongen

Aneuploidies cause gene-dosage imbalances that presumably result in a generalized decreased developmental homeostasis, which is expected to be detectable through an increase in fluctuating asymmetry (FA) of bilateral symmetric traits. However, support for the link between aneuploidy and FA is currently limited and no comparisons among different aneuploidies have been made. Here, we study FA in ...

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