A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q

Halal, Fahed; Vekemans, Michel; Kaloustian, Vazken M. Der

doi:10.1002/ajmg.1320320322

Cited by 11 publications

(15 citation statements)

References 15 publications

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“…Halal et al 46 described a female infant with trisomy 1p31-1pter, resulting from a translocation between chromosomes 1 and 2. It is likely that one of the parents (who refused testing) carries a balanced translocation, as there were seven previous miscarriages.…”

Section: Mapping Of Trisomic Regions In Partial Trisomiesmentioning

confidence: 99%

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X

et al. 2007

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Only one X chromosome functions in diploid human cells irrespective of the sex of the individual and the number of X chromosomes. Yet, as we show, more than one X is active in the majority of human triploid cells. Therefore, we suggest that (i) the active X is chosen by repression of its XIST locus, (ii) the repressor is encoded by an autosome and is dosage sensitive, and (iii) the extra dose of this key repressor enables the expression of more than one X in triploid cells. Because autosomal trisomies might help locate the putative dosage sensitive trans-acting factor, we looked for two active X chromosomes in such cells. Previously, we reported that females trisomic for 18 different human autosomes had only one active X and a normal inactive X chromosome. Now we report the effect of triplication of the four autosomes not studied previously; data about these rare trisomies -full or partial -were used to identify autosomal regions relevant to the choice of active X. We find that triplication of the entire chromosomes 5 and 11 and parts of chromosomes 1 and 19 is associated with normal patterns of X inactivation, excluding these as candidate regions. However, females with inherited triplications of 1p21.3 -q25.3, 1p31 and 19p13.2 -q13.33 were not ascertained. Thus, if a single key dose-sensitive gene induces XIST repression, it could reside in one of these locations. Alternatively, more than one dosage-sensitive autosomal locus is required to form the repressor complex.

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Section: Mapping Of Trisomic Regions In Partial Trisomiesmentioning

confidence: 99%

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X

et al. 2007

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“…1B). The 1p duplications identified by Elejalde et al [1984], Halal et al [1989], and Warden et al [2001] completely overlap the 1p duplication identified in our patient. Thus the telomeric breakpoint of the 1p duplication reported by Garcia-Heras et al [1999] and the telomeric breakpoint identified in our patient possibly narrow the region of dosage sensitivity for congenital heart defects on 1p (Fig.…”

Section: Discussionmentioning

confidence: 54%

“…1B). A patient, from Halal et al [1989] had a large duplication of 1p (from 1p31 to 1pter) that completely covers the duplication identified in our patient; however, this patient also had a deletion on chromosome 2q through inheritance of an unbalanced translocation. This patient had intrauterine growth retardation, multiple congenital heart defects and growth retardation and died at 3 months.…”

Section: Discussionmentioning

confidence: 66%

“…The two patients reported by Elejalde et al [1984] and Warden et al [2001] as well as the patient with the unbalanced translocation reported by Halal et al [1989] had significant heart abnormalities (Fig. 1B).…”

Section: Discussionmentioning

confidence: 88%

“…Metaphase showing 1p regions duplicated in our patient and others whose duplication overlaps our patients dup(lp). A, Halal et al [1989]; B, Elejalde et al [1984]; C, Warden et al [2001]; D, Our patient; E, Hayashi et al [2005]; F, Garcia-Heras et al [1999]. * Approximately 2 MB duplicated region shared by patients with CHD but not by patients without CHD.…”

Section: Methodsmentioning

confidence: 94%

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A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features

Lennon

Boerkoel

Plunkett

et al. 2006

American J of Med Genetics Pt A

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Chromosome duplications involving 1p are rarely reported but are apparently associated with short survival as well as congenital malformations and impaired development. Several of these have had congenital heart defects, although too few patients have been reported with similar breakpoints to characterize a syndrome. We present a girl with a novel interstitial duplication in the short arm of chromosome 1 [46,XX,dup(1)(p34.1p34.3)]. She presented with congenital heart defects at 1 month and by 1 year of age manifested delayed acquisition of motor milestones and subsequently of language milestones. By breakpoint-mapping using FISH analysis, we determined that her 1p duplication spans 8.5 megabases. Her 1p duplication is the smallest reported to date to contain 1p34 in patients with congenital heart defect due to abnormalities of heart looping during development. Thus, her 8.5 MB duplication provides a target region to search for a potentially dosage-sensitive gene(s) causing abnormal heart looping when duplicated. Two patients have been reported with duplication including 1p34 but without congenital heart defect, and their duplications span all but the distal approximately 2 MB segment duplicated in our patient. Thus, within our patient's 8.5 MB target region for a dosage sensitive gene leading to looping abnormalities (and thereby congenital heart defect), the distal 2 MB region might well be the region to begin the search.

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