Distal trisomy 14q.

Mikelsaar, Ruth; Ilus, Taina; Lurie, Iosif W.

doi:10.1136/jmg.24.6.380

Cited by 14 publications

(14 citation statements)

References 3 publications

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“…When the literature was reviewed, at least 21 cases with partial 14 trisomy were found [1–13]. Most of these cases showed several common phenotypic features, including pre/postnatal growth retardation, hypotonia, hypertelorism and microcephaly.…”

Section: Discussionmentioning

confidence: 99%

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Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

Orellana¹,

Martı́nez²,

Badía³

et al. 2001

Clinical Genetics

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In this report we present the clinical features and molecular and cytogenetic findings in a female with partial trisomy 14q. Molecular and cytogenetic studies allowed us to determine that the extra 14q material (of paternal origin) was translocated postzygotically onto the maternal X chromosome. Consequently, only the derivative X chromosome was inactivated, although inactivation apparently did not spread over the entire chromosome 14q. This partial inactivation makes the present case unusual, giving rise to phenotypic features absent in other patients with partial trisomy 14q, typically restricted to the distal part of the chromosome.

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Section: Discussionmentioning

confidence: 99%

“…Regular and complete 14 trisomy is probably lethal. However, several cases of partial 14 trisomy have been reported [1–13]. The most common abnormality is the duplication of 14p and various segments of proximal 14q; much less common is the duplication of distal 14q.…”

mentioning

confidence: 99%

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

Orellana¹,

Martı́nez²,

Badía³

et al. 2001

Clinical Genetics

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“…The appearance of this cen tromere is very likely the consequence of the rearrangement that generated the marker chromosome, an apparent inverted duplication: 14qter->q32::q32->qter. This finding revealed a previously undetected distal trisomy 14, a condition associated with a number of psychodevelopmental abnormalities (Turleau etal., 1983;Markkanenctal., 1984;Garret al, 1986;Mikelsaar et al, 1987;Gilgenkrantz et al, 1990;Keyeux et al, 1990;Nakamura et al, 1990).…”

Section: Discussionmentioning

confidence: 99%

A stable marker chromosome with a cryptic centromere: evidence for centromeric sequences associated with an inverted duplication

Sacchi

Magnani²,

Fuhrman-Conti³

et al. 1996

Cytogenet Genome Res

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Centromere activation, an important mechanism in karyotype evolution, is occasionally observed in some human chromosome rearrangements. We report a possible occurrence of centromere activation in a marker chromosome containing an atypical centromere associated with an inverted duplication of the region 14q32→qter. The marker chromosome’s reduced centromere lacks both the α and β satellite sequences usually found at normal centromeres. In an attempt to identify the centromeric sequences, the marker chromosome was flow-sorted and amplified by a degenerate oligonucleotide primer polymerase chain reaction. Reverse chromosome painting experiments showed that the marker chromosome contains sequences that are unique to the distal region of chromosome 14, as well as a low copy number of (centromeric) sequences that are also highly represented in the centromeres of chromosomes 18 and 19. These data suggest the activation of a novel centromere in the 14q32→qter region, very likely consequent to the duplication of the region itself.

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“…Trisomic segments of the reported cases were varied, ranging from q22-~qter to q32~qter. To make specific karyotype-phenotype comparisons on the basis of length of 14q, these cases were divided into three groups: 5 cases with trisomy for 14q22 or q23~qter (Pfeiffer et al, 1973;Fryns et al, 1977;Bridgman and Butler, 1980;Geormaneanu et al, 1981;Cohen et al, 1983), 9 cases with trisomy for 14q24--~ qter (Wyandt et al, 1977;Atkins and Patil, 1983;Nikolis et al, 1983;Orye et al, 1983;Romain et al, 1983;Kaiser et al, 1984;Markkanen et aI., 1984;Sklower et aI., 1984;Mikelsaar et al, 1987), and 5 cases with trisomy for 14q31 or q32--,qter (Trunca and Opitz, 1977;Turleau et al, 1983;Sklower et aI., 1984;Carr et aI., 1987).…”

Section: Cytogenetic Findingsmentioning

confidence: 99%

Distal 14q trisomy syndrome in two siblings: Further delineation of its phenotype

et al. 1988

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Distal trisomy 14q.

Cited by 14 publications

References 3 publications

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

A stable marker chromosome with a cryptic centromere: evidence for centromeric sequences associated with an inverted duplication

Distal 14q trisomy syndrome in two siblings: Further delineation of its phenotype

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