Results 31 to 40 of about 231,455 (290)

A Chromosomal Inversion of 46XX, inv (6) (p21.3p23) Connects to Congenital Heart Defects

open access: yesFrontiers in Cardiovascular Medicine, 2020
Congenital heart defects (CHDs) represent the most common human birth defects. Ventricular septal defect (VSD) is the most common subtype of CHDs. It has been shown that about 20–40% of VSDs are closely related to chromosomal aneuploidies or Mendelian ...
Liangping Cheng   +12 more
doaj   +1 more source

A CASE WITH A RARE CHROMOSOMAL ABNORMALITY: ISOCHROMOSOME 18p

open access: yes, 2010
A case with a rare chromosomal abnormality: isochromosome 18p: Isochromosome 18p(i(18p)), is a rare chromosomal disorder that occurs once in about every 140.000 live births and affects males and females equally.
SAATÇİ, Çetin   +5 more
core   +3 more sources

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience

open access: yesInternational Journal of General Medicine, 2021
Hailong Huang,1,* Meiying Cai,1,* Linyu Liu,1,2 Liangpu Xu,1 Na Lin1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian ...
Huang H, Cai M, Liu L, Xu L, Lin N
doaj  

Cytogenetic features in primary myelodysplastic syndrome Egyptian patients

open access: yesJournal of Advanced Research, 2018
Karyotype is the most important diagnostic and prognostic parameter in myelodysplastic syndromes (MDS) and is abnormal in approximately 50% of patients.
Yasser Elnahass, Lamiaa Youssif
doaj   +1 more source

Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype

open access: yesOpen Life Sciences, 2022
Chromosomal abnormality is one of the important causes of dysplasia in children. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with dysplasia vary greatly.
Miao Zong-Yu   +4 more
doaj   +1 more source

A Case of Trisomy 9 Mosaicism Confirmed by Microarray Test [PDF]

open access: yesKosin Medical Journal, 2020
Trisomy 9 mosaicism syndrome is a rare chromosomal abnormality with a high incidence of natural abortion and perinatal death. This syndrome is characterized by intrauterine growth retardation, mental retardation, craniofacial dysmorphism including a ...
Park Chang-Eon   +3 more
doaj   +1 more source

Chromosomal Abnormality, fetal/neonatal Death and Socioeconomic Status: A Prospective Cohort Study

open access: yes, 2023
Objectives To assess the risk gradient of chromosomal abnormalities and fetal or neonatal death across a socioeconomic spectrum of pregnant women.
이준호
core   +1 more source

Fetal calcifications are associated with chromosomal abnormalities. [PDF]

open access: yesPLoS ONE, 2015
The biological importance of calcifications occasionally noted in fetal tissues (mainly liver) at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal ...
Ellika Sahlin   +4 more
doaj   +1 more source

Chromosome Abnormalities

open access: yesVeterinary Clinics of North America: Food Animal Practice, 1993
Chromosome abnormalities have been described in food animals since 1964. Some are self-limiting because they cause sterility or other developmental defects incompatible with normal growth and development, making them unacceptable for production systems.
openaire   +2 more sources

Molecular cytotaxonomy of primates by chromosomal in situ suppression hybridization [PDF]

open access: yes, 1990
A new strategy for analyzing chromosomal evolution in primates is presented using chromosomal in situ suppression (CISS) hybridization. Biotin-labeled DNA libraries from flow-sorted human chromosomes are hybridized to chromosome preparations of ...
Stanyon, Roscoe   +3 more
core   +1 more source

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