Chromosome 11q Trisomy

染色体11q三体综合征

更新于：2024-11-01

基本信息

别名

11q duplication syndrome、11q syndrome、11q+ syndrome

+ [10]

简介

Duplication of the long arm of chromosome 11 with delayed growth and mental development, craniofacial asymmetry, microcephaly, dysmorphic facies, strabismus, musculoskeletal abnormalities, imperforate anus, cryptorchidism, and congenital heart defects. Some patients exhibits symptoms of cri-du-chat or chromosome 5p deletion syndrome (a peculiar crying sound resembling that of a suffering kitten observed in infants with craniofacial abnormalities that include microcephaly, round facies, hypertelorism, upslanting palpebral fissures, epicanthus, large frontal sinus, and other anomalies). The phenotype is variable and is related to the size of duplication. Mental retardation ranges from moderate to severe.

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100 项与染色体11q三体综合征相关的临床结果

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100 项与染色体11q三体综合征相关的转化医学

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0 项与染色体11q三体综合征相关的专利（医药）

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项与染色体11q三体综合征相关的文献（医药）

2024-07-03·British Journal of Neurosurgery4区 · 医学

Endoscopic diving technique for surgery of brain abscess

4区 · 医学

Article

作者: Fujii, Yu ; Kitamura, Satoshi ; Natsume, Takenori ; Suzuki, Yota ; Ogiwara, Toshihiro ; Horiuchi, Tetsuyoshi ; Hanaoka, Yoshiki

BACKGROUNDRecent advances in neuroendoscopic surgery have led to the minimally invasive treatment of brain abscesses using various endoscopy techniques. The endoscopic diving technique (EDT) involving the formation of fluid lenses to improve the visibility of the endoscope has been reported to be useful in the endoscopic endonasal approach (EEA) for pituitary and midline cranial base lesions. Here, we report a case of brain abscess treated endoscopically using EDT in cylinder surgery.CLINICAL PRESENTATIONA 29-year-old man with 11q trisomy syndrome developed a fever and progressive right hemiparesis was observed. A diagnosis of a brain abscess was made based on neuroradiological imaging, and endoscopic irrigation and drainage with EDT via a transparent endoscopic sheath were performed, which provided a clear operative field and allowed satisfactory irrigation without bacterial contamination. The bacterium identified by PCR was Streptococcus intermedius, and antibiotic therapy was administered. Postoperatively, his symptoms gradually improved.CONCLUSIONThis is the first technical case report describing the clinical experience of EDT in brain abscess surgery. EDT may be a useful technique not only in EEA but also in cylinder surgery for brain abscesses.

2023-09-01·Mammalian genome : official journal of the International Mammalian Genome Society

The spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4.

Article

作者: Caddle, L Brianna ; Urban, Rachel ; Goodwin, Leslie O ; Donahue, Leah Rae ; Welsh, Ian C ; Edie, Sarah ; Luzzio, Alana ; Murray, Stephen A ; Cox, Timothy C ; Reinholdt, Laura G ; Bergstrom, David E ; Palmer, Kristina

The external ear develops from an organized convergence of ventrally migrating neural crest cells into the first and second branchial arches. Defects in external ear position are often symptomatic of complex syndromes such as Apert, Treacher-Collins, and Crouzon Syndrome. The low set ears (Lse) spontaneous mouse mutant is characterized by the dominant inheritance of a ventrally shifted external ear position and an abnormal external auditory meatus (EAM). We identified the causative mutation as a 148 Kb tandem duplication on Chromosome 7, which includes the entire coding sequences of Fgf3 and Fgf4. Duplications of FGF3 and FGF4 occur in 11q duplication syndrome in humans and are associated with craniofacial anomalies, among other features. Intercrosses of Lse-affected mice revealed perinatal lethality in homozygotes, and Lse/Lse embryos display additional phenotypes including polydactyly, abnormal eye morphology, and cleft secondary palate. The duplication results in increased Fgf3 and Fgf4 expression in the branchial arches and additional discrete domains in the developing embryo. This ectopic overexpression resulted in functional FGF signaling, demonstrated by increased Spry2 and Etv5 expression in overlapping domains of the developing arches. Finally, a genetic interaction between Fgf3/4 overexpression and Twist1, a regulator of skull suture development, resulted in perinatal lethality, cleft palate, and polydactyly in compound heterozygotes. These data indicate a role for Fgf3 and Fgf4 in external ear and palate development and provide a novel mouse model for further interrogation of the biological consequences of human FGF3/4 duplication.

2022-12-01·Molecular Cytogenetics4区 · 生物学

Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies

4区 · 生物学

ReviewOA

作者: Wang, Xianfu ; Pang, Hui ; Taylor, Ashley ; Kim, Young Mi ; Li, Shibo ; Walker, Austin ; Lu, Xianglan ; Demarzo, Danielle

AbstractBackgroundPartial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual disability, and distinctive craniofacial abnormalities. Congenital heart defects, skeletal abnormalities, urogenital anomalies, and hypotonia are found in some affected individuals.MethodsWe describe a 16-year-old patient presented with most of the hallmark phenotypes of trisomy 11q syndrome as well as exhibiting symptoms of hearing loss, seizures, and abnormal endocrinological and ophthalmological findings. Routine chromosome analysis and subsequent chromosomal microarray analysis (CMA) were performed to detect genetic abnormalities in this patient.ResultsWe identified an abnormal male karyotype with a derivative chromosome 4 due to an unbalanced translocation between chromosomes 4 and chromosome 11. The CMA results revealed a 56 Mb duplication of chromosome 11q14.1-qter and a 874 Kb terminal deletion of the short arm of chromosome 4.ConclusionA genomic imbalance resulting in partial trisomy 11q was found in a patient with multiple congenital anomalies. We compared the phenotypes of all known “pure” trisomy 11q cases in the literature and find that trisomy 11q23-qter is both recurrent and the most common cytogenetic abnormality found in the reported cases. It is associated with the core features of trisomy 11q syndrome.Graphical abstract

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