Results 1 to 10 of about 287,218 (160)
Chromosome 11q13 deletion syndrome [PDF]
Korean Journal of Pediatrics, 2016 Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular ...
Yu-Seon Kim +4 more
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Terminal Deletion of Chromosome 6q
Pediatrics and Neonatology, 2008 Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we
Pen-Hua Su +3 more
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Chromosome 1p31.1 deletion syndrome: Limited expression
Annals of Indian Academy of Neurology, 2021 Chromosomal microdeletion syndromes usually present with neurological abnormalities, developmental delays, and various systemic abnormalities.
Seba Biswal +4 more
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Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling [PDF]
Case Reports in GeneticsMarfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin-1 (FBN1) gene on Chromosome 15q21.1.
Breanna Beers +2 more
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The Iraqi Journal of Medical Sciences, 2021 Background: Chronic lymphocytic leukemia (CLL) is a malignancy of mature B cells. The genetic factors have been found to play a role in the pathogenesis of the disease.
Hiba H. Hashim, Subeh S. Abdulateef
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Chromosomal deletions detected at amniocentesis
Taiwanese Journal of Obstetrics & Gynecology, 2014 Objective: The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis.
Chen-Ju Lin +10 more
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BMC Medical Genomics, 2023 Background Xq22.1–q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and genotype of chromosome Xq22.1–q22.3 deletions.
Hui-Hui Xu +5 more
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Epilepsy and deletions at chromosome 2q24 [PDF]
American Journal of Medical Genetics Part A, 2006 Chromosomal abnormalities are an important cause of epilepsy [Singh et al., 2002], which might be the presenting symptom in the context of a specific syndrome. A recent article by Langer et al. [2006] reports on a translocation t(2;15) with deletion at 2q24-q31 in a girl with epilepsy, dysmorphic features, and severe developmental delay.
Pereira, S +4 more
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Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report [PDF]
Annals of Rehabilitation Medicine, 2018 We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation.
Heewon Lee +4 more
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Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
BMC Medical Genomics, 2022 Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
Jincheng Dai +4 more
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