Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Choi, Jae-Won; Lee, Hojung; Lee, Cha Gon

doi:10.1002/ajmg.a.36980

Cited by 4 publications

(6 citation statements)

References 21 publications

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“…Duplication of 11q23.3-q25 without a copy number change of another chromosome is rare (24)(25)(26)(27)(28) and shares several common clinical features with 22q11.2 duplication, such as intellectual disability, growth retardation, microcephaly, facial dysmorphism, epilepsy, congenital inguinal hernia, and cardiac, renal and cerebral malformations (27,29), some of which were presented in the patient in the present study. The duplication region of this patient contains >100 OMIM genes, many of which have not been well characterized.…”

Section: Discussionsupporting

confidence: 51%

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A clinical and molecular analysis of a patient with Emanuel syndrome

Luo

Yang

Tan

et al. 2017

Molecular Medicine Reports

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Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment. The karyotype of the patient was 47,XY,+del(22)(q13), and the maternal karyotype was 46,XX,t(11;22)(q25;q13),9qh‑,15p+. Single‑nucleotide polymorphism‑array analysis of the proband indicated a partial duplication of chromosomes 22 and 11 at 22q11.1‑q11.21 and 11q23.3‑q25, respectively, which confirmed the diagnosis of ES. To date, no cases of ES have been reported in mainland China. The present case further emphasizes the necessity and importance of high‑resolution techniques for genetic diagnosis and for subsequent genetic counseling. The present study contributed to the phenotypic delineation of ES and confirmed the first ES patient in mainland China.

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Section: Discussionsupporting

confidence: 51%

“…The genes that contribute to the phenotypes of 11q23.3-q25 duplication and the mechanisms by which changes in gene dosage exert disruptive effects on gene structure and function remain unknown. Above all, the clinical phenotype of ES arises from the duplication of 22q11 and 11q23-qter (25).…”

Section: Discussionmentioning

confidence: 99%

A clinical and molecular analysis of a patient with Emanuel syndrome

Luo

Yang

Tan

et al. 2017

Molecular Medicine Reports

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“…On the other hand, DSCAML1 has been mapped to the 11q23 region, implicated in the pathophysiology of neurodevelopmental disorders including Jacobsen, Gilles de la Tourette, and distal trisomy 11q syndromes which points to DSCAML1 as a potential causative gene, although a clear causation has not been proven (Agarwala et al, 2001;Pauls, 2003;Mattina et al, 2009;Chen et al, 2014;Choi et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Subtle Roles of Down Syndrome Cell Adhesion Molecules in Embryonic Forebrain Development and Neuronal Migration

Mitsogiannis

Pancho

Aerts

et al. 2021

Front. Cell Dev. Biol.

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Down Syndrome (DS) Cell Adhesion Molecules (DSCAMs) are transmembrane proteins of the immunoglobulin superfamily. Human DSCAM is located within the DS critical region of chromosome 21 (duplicated in Down Syndrome patients), and mutations or copy-number variations of this gene have also been associated to Fragile X syndrome, intellectual disability, autism, and bipolar disorder. The DSCAM paralogue DSCAM-like 1 (DSCAML1) maps to chromosome 11q23, implicated in the development of Jacobsen and Tourette syndromes. Additionally, a spontaneous mouse DSCAM deletion leads to motor coordination defects and seizures. Previous research has revealed roles for DSCAMs in several neurodevelopmental processes, including synaptogenesis, dendritic self-avoidance, cell sorting, axon growth and branching. However, their functions in embryonic mammalian forebrain development have yet to be completely elucidated. In this study, we revealed highly dynamic spatiotemporal patterns of Dscam and Dscaml1 expression in definite cortical layers of the embryonic mouse brain, as well as in structures and ganglionic eminence-derived neural populations within the embryonic subpallium. However, an in-depth histological analysis of cortical development, ventral forebrain morphogenesis, cortical interneuron migration, and cortical-subcortical connectivity formation processes in Dscam and Dscaml1 knockout mice (Dscamdel17 and Dscaml1GT) at several embryonic stages indicated that constitutive loss of Dscam and Dscaml1 does not affect these developmental events in a significant manner. Given that several Dscam- and Dscaml1-linked neurodevelopmental disorders are associated to chromosomal region duplication events, we furthermore sought to examine the neurodevelopmental effects of Dscam and Dscaml1 gain of function (GOF). In vitro, ex vivo, and in vivo GOF negatively impacted neural migration processes important to cortical development, and affected the morphology of maturing neurons. Overall, these findings contribute to existing knowledge on the molecular etiology of human neurodevelopmental disorders by elucidating how dosage variations of genes encoding adhesive cues can disrupt cell-cell or cell-environment interactions crucial for neuronal migration.

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“…Undescended testis and small penis are found in male patients. Clinical findings are thought to be correlated with the size and genomic contents of the duplicated region [ 3 – 5 ].…”

Section: Introductionmentioning

confidence: 99%

“…These cases are considered as “pure” trisomy 11q because there is no or very minimum dosage effect from other chromosomes. We have identified ten patients with this type in the literature [ 3 – 5 , 18 – 21 ].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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Background Partial 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. Methods We 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. Results We 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. Conclusion A 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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Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Cited by 4 publications

References 21 publications

A clinical and molecular analysis of a patient with Emanuel syndrome

A clinical and molecular analysis of a patient with Emanuel syndrome

Subtle Roles of Down Syndrome Cell Adhesion Molecules in Embryonic Forebrain Development and Neuronal Migration

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

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