A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
BMC Medical Genomics, 2021 Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
Rosaria Nardello +5 more
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Understanding chromosome disorders and their implications for special educators [PDF]
, 2014 More children are now being diagnosed with chromosome abnormalities. Some chromosome disorder syndromes are relatively well known; while others are so rare that there is only limited evidence about their likely impact on learning and development.
Gilmore, Linda
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Functional and molecular effects of chromosome 21 trisomy [PDF]
, 2010 Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
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Chromosome Evolution in New World Monkeys (Platyrrhini) [PDF]
, 2012 During the last decades, New World monkey (NWM, Platyrrhini, Anthropoideae) comparative cytogenetics has shed light on many fundamental aspects of genome organisation and evolution in this fascinating, but also highly endangered group of neotropical ...
Müller, Stefan +2 more
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The Relationship between Skewed X-chromosome Inactivation and Neurological Disorders Development
International Clinical Neuroscience Journal, 2016 X-chromosome inactivation (XCI) is a process by which one of the copies of the X chromosome in mammalian female cells is inactivated. The XCI causes a balanced X-linked gene quantity between male and females; moreover, it results mosaic females which ...
Mahdi Taherian +3 more
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Frontiers in Genetics, 2019 Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily +4 more
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Chromosomal abnormalities and mental disorders [PDF]
Postgraduate Medical Journal, 1972 THE almost constant concomitance of severe intellectual impairment with autosomal chromosome imbalance is well known. Mental defect is a more variable manifestation in the presence of sex chromosome anomalies. In both categories, however, the impairment of cognitive function has been the centre ofmuch attention.
openaire +2 more sources
Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders
, 2013 Chapter 17 discusses Chromosome 15, which is a small, satellited acrocentric chromosome that shows remarkable structural complexity in the proximal long arm, and which leads to a host of rearrangements that have been implicated in human genetic disorders.
David J. Wu, Carolyn Schanen
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Global patterns in human mitochondrial DNA and Y-chromosome variation caused by spatial instability of the local cultural processes [PDF]
, 2006 Because of the widespread phenomenon of patrilocality, it is hypothesized that Y-chromosome variants tend to be more localized geographically than those of mitochondrial DNA ( mtDNA).
Reddy, B. Mohan +37 more
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Evaluation of STR Marker Polymorphism and Informativeness for QF-PCR-Based Detection of Common Fetal Aneuploidies in the Kurdish Population [PDF]
مجله علمی دانشگاه علوم پزشکی کردستانBackground and Aim: Chromosomal aneuploidies are among the most important causes of congenital anomalies, intellectual disability, and spontaneous miscarriages.
Arash Pooladi +6 more
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