Partial trisomy 4q and preaxial limb defects

Lurie, Iosif W.

doi:10.1002/ajmg.a.30960

Cited by 7 publications

(4 citation statements)

References 10 publications

(7 reference statements)

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“…The nose, ears and retinal pigment appeared normal. Comparison with previously reported cases of terminal chromosome 4q duplications and chromosome 10p trisomies shows that cleft lip/palate is a common abnormality associated with trisomy 10p, while the observed hand and limb anomalies could have resulted from either duplication …”

Section: Discussionsupporting

confidence: 51%

Cytogenetic and morphological analysis of early products of conception following hystero‐embryoscopy from couples with recurrent pregnancy loss

et al. 2012

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Section: Discussionsupporting

confidence: 51%

Cytogenetic and morphological analysis of early products of conception following hystero‐embryoscopy from couples with recurrent pregnancy loss

et al. 2012

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“…Less frequent features include cardiac malformations, renal anomalies, unilateral or bilateral cryptorchidism, umbilical hernia, and epilepsy. Rarely, choanal atresia, preaxial polydactyly, and neonatal choleostasis have been reported [Lin et al, ; Lurie, ; Egritas et al, ]. Most of these cases were based on conventional cytogenetic methods; hence, they lack the exact genomic boundaries of the duplication and additional submicroscopic aberrations in these patients.…”

Section: Introductionmentioning

confidence: 99%

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array‐based comparative genomic hybridization (oaCGH) analysis

Thapa

Asamoah

Gowans

et al. 2014

American J of Med Genetics Pt A

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Pure/direct duplications on the long arm of chromosome 4 represent an infrequent chromosomal finding. Description of clinical findings in 30 patients has resulted in defining the 4q-associated phenotype. However, such duplications have not been molecularly or genomically characterized yet, limiting genotype-phenotype correlation. We report on the first two patients with a duplication involving the distal third of 4q that are characterized molecularly and genomically. Clinical features in our patients typical of 4q duplication syndrome included mild intellectual disability, cranial malformation, minor facial dysmorphism, and digital anomaly. Duplication of the segment 4q33-4q34, appears to be the critical region resulting in the phenotype associated with 4q duplication syndrome. The genes GLRA3, GMP6A that are invovled in neurogenesis and HAND2 in craniofacial development, within the duplicated region of 4q, may play a key role in the clinical phenotype. As more reporting on molecular characterization of 4q duplication becomes available, the role of these underlying genes may become clearer.

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“…Compared to genes encoding other cardiac transcription factors, HAND1/2 seem to be less frequently mutated in congenital disease, possibly due to their partial redundancy and potential to compensate for one another upon perturbation ( Barnes et al, 2011 ; Charité et al, 2000 ; McFadden et al, 2005 ). Notably, partial trisomy of distal chromosome 4q (4q+; no OMIM reference), which contains the HAND2 locus, is associated with cardiac, digit, kidney and craniofacial defects, indicating broader LPM perturbation during development ( Battaglia et al, 2005 ; Lundin et al, 2002 ; Lurie, 2005 ). Elegant studies have linked mouse Hand2 dosage to developmental phenotypes that recapitulate major aspects of human 4q+ syndrome ( Table 3 ) ( Tamura et al, 2013 ).…”

Section: Syndromes With Joint Heart and Limb Anomaliesmentioning

confidence: 99%

Lateral thinking in syndromic congenital cardiovascular disease

Kocere

Lalonde

Mosimann

et al. 2023

Disease Models &Amp; Mechanisms

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Syndromic birth defects are rare diseases that can present with seemingly pleiotropic comorbidities. Prime examples are rare congenital heart and cardiovascular anomalies that can be accompanied by forelimb defects, kidney disorders and more. Whether such multi-organ defects share a developmental link remains a key question with relevance to the diagnosis, therapeutic intervention and long-term care of affected patients. The heart, endothelial and blood lineages develop together from the lateral plate mesoderm (LPM), which also harbors the progenitor cells for limb connective tissue, kidneys, mesothelia and smooth muscle. This developmental plasticity of the LPM, which founds on multi-lineage progenitor cells and shared transcription factor expression across different descendant lineages, has the potential to explain the seemingly disparate syndromic defects in rare congenital diseases. Combining patient genome-sequencing data with model organism studies has already provided a wealth of insights into complex LPM-associated birth defects, such as heart-hand syndromes. Here, we summarize developmental and known disease-causing mechanisms in early LPM patterning, address how defects in these processes drive multi-organ comorbidities, and outline how several cardiovascular and hematopoietic birth defects with complex comorbidities may be LPM-associated diseases. We also discuss strategies to integrate patient sequencing, data-aggregating resources and model organism studies to mechanistically decode congenital defects, including potentially LPM-associated orphan diseases. Eventually, linking complex congenital phenotypes to a common LPM origin provides a framework to discover developmental mechanisms and to anticipate comorbidities in congenital diseases affecting the cardiovascular system and beyond.

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Partial trisomy 4q and preaxial limb defects

Cited by 7 publications

References 10 publications

Cytogenetic and morphological analysis of early products of conception following hystero‐embryoscopy from couples with recurrent pregnancy loss

Cytogenetic and morphological analysis of early products of conception following hystero‐embryoscopy from couples with recurrent pregnancy loss

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array‐based comparative genomic hybridization (oaCGH) analysis

Lateral thinking in syndromic congenital cardiovascular disease

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