Partial trisomy 3q

Yunis, Emilio; Quintero, Luis; Casteñeda, A.; Ramirez, E; Leibovici, Myriam

doi:10.1007/bf00272831

Cited by 19 publications

(6 citation statements)

References 6 publications

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“…Comparison of the malformations in our patient with those found in partial trisomy 3q showed a definite similarity, e.g. hypertrichosis and facial dysmorphia (Salazar et al 1979, Stengel-Rutkowski et al 1979, Yunis et al 1979 (Table 1). Autopsy of one patient described by Salazar alslo revealed the absence of ovaries.…”

Section: Discussionsupporting

confidence: 63%

Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)

Oorthuys¹,

Slater

Barrowclough

et al. 1981

Clinical Genetics

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Section: Discussionsupporting

confidence: 63%

Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)

Oorthuys¹,

Slater

Barrowclough

et al. 1981

Clinical Genetics

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“…Because the limited karyotypic information describes the patient as a "3q trisomy," the assumption was that this is the result of a structural chromosomal defect rather than an aneuploidy. For the purposes of analysis, the 58 cases were divided into those resulting from a translocation (Clarke et al 1964, Falek et al 1966, Walzer et al 1966, Aarskog 1969, Chiyo et al 1976, Schwanitz et al 1977, Centerwall et al 1977, Sod et al 1978, Fryns et al 1978a, Kondo et al 1979, Yunis et al 1979, Salazar et al 1979, Fear & Briggs 1979, Mulcahy et al 1979, Blumberg et al 1980, Steinbach et al 1981, Rivera et al 1984, Ayral et al 1984, Anneren & Gustavson 1984, Wilson et al 1985a) and those resulting from other mechanisms (Mulcahy et al 1979, Steinbach et al 1981, Wilson et al 1985a, Sinha 1968, Allderdice et al 1975, Patil et al 1978, Fineman et al 1978, Wilson et al 1978, Stengel-Rutkowski et al 1979, Sciorra et al 1979, Pope et al 1979, Williamson et al 1981, Sutherland et al 1981, Rosenfeld et al 1981). Of the 31 cases with translocations, 15 (48%) had CCVM.…”

Section: Resultsmentioning

confidence: 99%

Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review

et al. 1990

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Nine cases of congenital cardiovascular malformations (CCVM) with associated unbalanced structural chromosomal abnormalities were ascertained in a population‐based study of heart defects, constituting 0.4% of the 2,103 cases of CCVM in the Baltimore‐Washington Infant Study (BWIS). This represents a four‐fold increase over the general population rate. In an effort to determine possible phenotype/karyotype correlations, the literature was searched for cases with similar karyotypic abnormalities. This comparison of 223 literature cases of karyotypic abnormalities with nine similar cases ascertained by heart malformation has provided the opportunity to review cardiac defects reported in cases of structural abnormalities of chromosomes 1, 3, 7, 8, 9, 10, 11, 15, and 18. The most common cardiac malformation present in the chromosomal cases was ventricular septal defect (VSD) (39%); similarly VSD is the most common CCVM among children with heart defects, although it is the primary defect in only 20% of the BWIS cases. Among all heart defects in the BWIS, atrial septal defect (ASD) represents 5.5% of all cases, but in cases of 8p duplication, ASD is present in 41%. In addition, 40% of cases of 9p duplication had an ASD. Similarly, 35% of cases of 11q duplication had an ASD. While the suggestion of specific karyotype/phenotype associations is premature, information on additional cases might clarify the possibility that genetic determinants related to septum formation may reside on chromosome 8, 9, and/or 11. The variety of chromosomal abnormalities in cases with ventricular septal defect indicates one type of genetic heterogeneity that may be involved in this very common heart defect.

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“…Of these, a de novo apparently balanced t(3;17) translocation in a severely affected child with a chromosome 3 breakpoint at 3q26.3 appeared to be highly signi®cant [Ireland et al, 1991]. Phenotypic overlap between CdLS and the duplication 3q syndrome had been noted in many reports prior to the identi®cation of this translocation [Yunis et al, 1979;Steinbach et al, 1981].…”

Section: Discussionmentioning

confidence: 99%

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

et al. 2001

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Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neurodevelopmental retardation. Most cases of CdLS appear to be sporadic. Familial cases are rare and indicate autosomal dominant inheritance. Several individuals with CdLS have been reported with chromosomal abnormalities, suggesting candidate genomic regions within which the causative gene(s) may lie. A CdLS gene location (CDL1) has been assigned to 3q26.3 based on phenotypic overlap with the duplication 3q syndrome (critical region 3q26.2-q27) and the report of a CdLS individual with a balanced de novo t(3;17)(q26.3;q23.1). It has been postulated that a gene within the dup3q critical region results in the CdLS when deleted or mutated. We have performed a linkage analysis to the minimal critical region for the dup3q syndrome (that encompasses the translocation breakpoint) on chromosome 3q in 10 rare familial cases of CdLS. Nineteen markers spanning a region of approximately 40 Mb (37 cM) were used. Results of a multipoint linkage analysis demonstrated total lod-scores that were negative across the chromosome 3q26-q27 region. In 4/10 families, lod-scores were less than -2 in the 2 cM region encompassing the translocation, while in the remaining 6/10 families, lod-scores could not exclude linkage to this region. These studies indicate that in some multicase families, the disease gene does not map to the CDL1 region at 3q26.3.

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Partial trisomy 3q

Cited by 19 publications

References 6 publications

Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)

Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)

Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

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