Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes

Sa, Byatt; Baker, Elizabeth; Ri, Richards; Roberts, Cynthia G.; Smith, Anne

doi:10.1002/(sici)1096-8628(19970627)70:4<357::aid-ajmg5>3.0.co;2-q

Cited by 9 publications

(3 citation statements)

References 11 publications

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“…HAND2 maps to chromosome 4q33. A high incidence of CHDs, including VSDs, septal defects, pulmonary atresia, coarctation of the aorta, and tetralogy of Fallot, is associated with genomic duplications or deletions of 4q33 (Borochowitz et al 1997; Byatt et al 1997). Studies of 131 ethnic Han Chinese children with CHDs, such as tetralogy of Fallot, pulmonary stenosis, atrioventricular septal defects, and VSDs with DORV, identified three HAND2 missense mutations, one isonymous mutation, and three mutations within the HAND2 5’ and 3’ untranslated regions in 12 of these patients (Shen et al 2010).…”

Section: Hand Factors In Human Chdmentioning

confidence: 99%

Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects

Vincentz

Barnes

Firulli

2011

Birth Defects Research

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Almost 15 years of careful study have established the related bHLH transcription factors Hand1 and Hand2 as critical for heart development across evolution. Hand factors make broad contributions, revealed through animal models, to the development of multiple cellular lineages that ultimately contribute to the heart. They perform critical roles in ventricular cardiomyocyte growth, differentiation, morphogenesis, and conduction. They are also important for the proper development of the cardiac outflow tract, epicardium, and endocardium. Molecularly, they function both through DNA-binding and through protein-protein interactions, which are regulated transcriptionally, post-transcriptionally by microRNAs, and post-translationally through phospho-regulation, Although direct Hand factor transcriptional targets are progressively being identified, confirmed direct targets of Hand factor transcriptional activity in the heart are limited. Identification of these targets will be critical to model the mechanisms by which Hand factor bHLH interactions affect developmental pathways. Improved understanding of Hand factor-mediated transcriptional cascades will be necessary to determine how Hand factor disregulation translates to human disease phenotypes. The following review summarizes the insight animal models have provided into the regulation and function of these factors during heart development, and the recent findings that suggest roles for HAND1 and HAND2 in human congenital heart disease.

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Section: Hand Factors In Human Chdmentioning

confidence: 99%

Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects

Vincentz

Barnes

Firulli

2011

Birth Defects Research

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“…The effect on gene expression resulting from this genetic imbalance is difficult to prognosticate. Other patients with features of two different imbalances have not necessarily been clear-cut or more severely retarded than for either imbalance alone (de la Chappelle et al 1973;Reddy et al 1996;Byatt et al 1997). The present case illustrates the continuing difficulty in fitting clinical features into precise and distinct syndromes.…”

Section: Discussionmentioning

confidence: 59%

A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization

Flaherty¹,

Moloney²,

Watson³

et al. 1998

J intellect Disabil Res

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A case is presented in which monosomy 21 was detected by routine cytogenetics and fluorescence in situ hybridization (FISH) studies demonstrated an unbalanced translocation t(5;21). The patient was partially monosomic for both 5p and 21q. The phenotype of the infant showed some features of the 5p- (cri-du-chat) syndrome, but there were also features present which were uncharacteristic of this syndrome. The present findings, combined with similar cases reported in the literature, provide further support for a proximal monosomy 21q syndrome.

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“…Appendix TABLE V. Duplications Originating at Bands 4q31, q32, q33, and q34* Characteristics Oka, et al, 1978Yunis, et al, 1977Issa, et al, 1976Angulo, et al, 1984Fonatsch et al, 1974Duval, et al, 1994 Appendix Goodman et al, 1997Legare, et al, 1994Priest, et al, 1991Byatt, et al, 1997Baccichetti, et al, 1975McDermott, et al, 1977Rivera, et al, 1992 Appendix…”

mentioning

confidence: 99%

Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

et al. 2000

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We describe monozygotic twins with partially discordant phenotypes who were found to have a duplication of chromosome region 4q28.3-qter. The duplicated region of chromosome 4 resulted from an unbalanced segregation of a balanced maternal (4;22)(q28.3;p13) translocation. Duplication of the long arm of chromosome 4 has been described in >60 patients; however, it usually results from the unbalanced segregation of a parental balanced translocation and has an associated monosomy. Twenty cases of dup 4q without an associated monosomy have been reported, and this is the only case of dup 4q28. 3-qter. All cases of dup 4q are reviewed, and phenotypic aspects are analyzed. Issues of monozygotic twinning and other birth defects also are addressed.

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Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes

Cited by 9 publications

References 11 publications

Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects

Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects

A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization

Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

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