Results 21 to 30 of about 2,948,023 (230)

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

Journal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj   +1 more source

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities

Frontiers in Molecular Biosciences, 2021
Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome.
Meiying Cai, Hailong Huang, Liangpu Xu, Na Lin   +3 more
doaj   +1 more source

Chromosomal Abnormalities in ADHD

Pediatric Neurology Briefs, 2002
The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS), and other cytogenetic abnormalities among 100 children (64 boys) with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.
J Gordon Millichap
doaj   +1 more source

Chromosomal Abnormalities

, 2020
1 1. CMM 1 (Cutaneous Malignant Melanoma) is on the chromosome 1 = Autosomal Dominant, for dysplastic Nevi (BK moles = BK derived from the initials of two of their patient for cutaneous pigmented lesion which had particular clinical representation ...
Heredity cont’d
semanticscholar   +2 more sources

Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome [PDF]

Journal of Analytical Research in Clinical Medicine, 2018
Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation.
Simin Tagavi, Hossein Alikhah, Sharareh Barband, Fereshteh Farhadi, Mohammad Naghavi-Behzad, Saeed Jodi-Khajeh, Sahar Mohammadi, Reza Piri   +7 more
doaj   +1 more source

Diagnosis of fetal non‐chromosomal abnormalities on routine ultrasound examination at 11–13 weeks' gestation

Ultrasound in Obstetrics and Gynecology, 2019
To examine the performance of the routine 11–13‐week scan in detecting fetal non‐chromosomal abnormalities.
A. Syngelaki, A. Hammami, S. Bower, V. Zidere, R. Akolekar, K. Nicolaides   +5 more
semanticscholar   +1 more source

Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

Bulletin of the National Research Centre, 2021
Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times.
Tajudeen O. Yahaya, Esther O. Oladele, Daniel Anyebe, Chidiebere Obi, M. D. A. Bunza, Ridwan Sulaiman, Usman U. Liman   +6 more
doaj   +1 more source

Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.

American Journal of Human Genetics, 2019
Recurrent miscarriage (RM) affects millions of couples globally, and half of them have no demonstrated etiology. Genome sequencing (GS) is an enhanced and novel cytogenetic tool to define the contribution of chromosomal abnormalities in human diseases ...
Zi-Rui Dong, Junhao Yan, Fengping Xu, Jianying Yuan, Hui Jiang, Hui-Lin Wang, Haixiao Chen, Lei Zhang, Lingfei Ye, Jinjin Xu, Yuhua Shi, Zhen-Jun Yang, Ye Cao, Lingyun Chen, Qiao-Ling Li, Xia Zhao, Jiguang Li, Ao Chen, Wenwei Zhang, Hoi-Gin Wong, Ying-Ying Qin, Han Zhao, Yuan Chen, Pei Li, T. Ma, Wen-jing Wang, Yvonne K. Kwok, Yuan Jiang, A. Pursley, J. P. Chung, Yan Hong, K. Kristiansen, Huanming Yang, R. Piña-Aguilar, T. Leung, Sau W. Cheung, C. Morton, K. Choy, Zi-Jiang Chen   +38 more
semanticscholar   +1 more source

The association between IVF and chromosomal abnormalities compared to spontaneous conception

Journal of Biochemical and Clinical Genetics, 2021
In vitro fertilization (IVF) is a process by which an egg is extracted by needle aspiration and then combined with a sperm so that fertilization can occur outside the body. Genetic defects, such as chromosomal abnormalities, are considered rare among the
Sawsan Alharthi, Lama Alrasheed, Ghada Alrashed, Ghaida Almutairi, Marwan Nashabat, Majid Alfadhel   +5 more
doaj   +1 more source

CHROMOSOMAL ANALYSIS OF MENTALLY RETARDED CHILDREN WITH MICROCEPHALY [PDF]

, 2011
Background: Mental retardation is a common condition with the incidence of 1- 3% of the entire population; about 25% - 50% of them are genetic causes. Chromosomal causes account for up to 28%.
Afadiyanti, Alfi, Rusdi, Wiyosa Waluyan, Putra, Farmaditya Eka   +2 more
core   +1 more source