Results 11 to 20 of about 1,611,821 (178)
Clinical and neuropsychological characterization of Jacobsen syndrome (del11q) [PDF]
Journal of Neurodevelopmental DisordersBackground Jacobsen Syndrome (JS), also known as 11q Deletion Syndrome (del11q), is a rare genetic disorder affecting approximately 1 in 100,000 births that presents with varied clinical manifestations and severities including intellectual disability ...
Alexandra Garriz-Luis +5 more
doaj +4 more sources
11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report [PDF]
Journal of Medical Case Reports, 2018 Background 11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia.
Yuko Ichimiya +7 more
doaj +5 more sources
Obstructive Sleep Apnea in Jacobsen Syndrome. [PDF]
Sleep Vigil, 2019 Many congenital disorders are associated with an elevated risk of obstructive sleep apnea due to craniofacial abnormalities, hypotonia, and obesity. We describe a male with an 11q deletion (Jacobsen syndrome) with obstructive sleep apnea.The patient was diagnosed with severe obstructive sleep apnea, but was unable to adhere to positive airway pressure ...
Tubbs AS +3 more
europepmc +5 more sources
Alergologia PolskaContiguous gene (deletion) syndrome caused by partial deletion of the long arm of chromosome 11 is called Jacobsen syndrome (JS). Jacobsen syndrome is one of the rare causes of syndromic immunodeficiency.
Öner Özdemir +2 more
doaj +2 more sources
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region [PDF]
Clinical Case Reports, 2018 Key Clinical Message Jacobsen syndrome (JS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb.
Surasak Puvabanditsin +5 more
doaj +2 more sources
Jacobsen’s syndrome: case report
Аллергология и Иммунология в ПедиатрииIntroduction. Jacobsen syndrome (JS) is a rare genetic disease associated with the deletion of chromosome 11q, characterized by multiple malformations, hematological and immune disorders. The development of immunodeficiency in JS is often underestimated,
L. Yu. Barycheva +2 more
doaj +2 more sources
Brain DisordersJacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11.
Ghazaleh Ghorbannezhad +5 more
doaj +2 more sources
AN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROMEAN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROME
International Journal of Advanced Research, 2021 Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Jacobsen syndrome is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1.
Sushma Kumari, Hanna Hedleen
openaire +2 more sources
Jacobsen Syndrome with White Matter Changes [PDF]
Annals of Child Neurology, 2021 Sejin Ahn +5 more
doaj +3 more sources
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking [PDF]
Nature Communications, 2016 The molecular underpinning of autism is unclear. Here the authors show PX-RICS deficient mice exhibit autism-like social behavioural abnormalities and impaired GABAA receptor trafficking, and enhancing inhibitory synaptic transmission with a ...
Tsutomu Nakamura +10 more
doaj +2 more sources