2002
DOI: 10.1097/00125817-200201000-00003
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Molecular characterization of 18p deletions: Evidence for a breakpoint cluster

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Cited by 36 publications
(41 citation statements)
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“…This reasoning is supported by two reports indicating that neither of these traits were present in a patient with monosomy of the distal 8.3 -8. 4 Mb of 18p 8 and that both traits were found in two patients with deletions larger than 10 Mb. 7 In summary, we present a first tentative genotypephenotype map for patients with an 18pÀ syndrome.…”
Section: Discussionmentioning
confidence: 80%
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“…This reasoning is supported by two reports indicating that neither of these traits were present in a patient with monosomy of the distal 8.3 -8. 4 Mb of 18p 8 and that both traits were found in two patients with deletions larger than 10 Mb. 7 In summary, we present a first tentative genotypephenotype map for patients with an 18pÀ syndrome.…”
Section: Discussionmentioning
confidence: 80%
“…She had two febrile convulsions at the ages of 2 6 12 and 3 6 12 years. Upon clinical examination at the age of 3 4 12 years, she had short stature (length 87 cm/À3.4 SD, weight 14 kg/À0.5 SD and OFC 50 cm/ þ 0.2 SD). Hypertelorism, slightly up-slanting palpebral fissures, a slightly up-turned and broad nose, slight micrognathia, a thin upper lip as well as a round face with full cheeks were noted ( Figure 1, Table 2).…”
Section: Casementioning
confidence: 99%
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“…1,2 In 2002, we reported that 72% of individuals with 18p deletions have breaks at the centromere. 3 However, array comparative genomic hybridization (aCGH) has revealed that even those with so-called "centromeric breaks" have breakpoints that fall into four groups with different genetic content (unpublished data). In addition, individuals with Ring 18 have unique breakpoints on both the p and q arms creating twice the diversity.…”
mentioning
confidence: 99%
“…[3][4][5][6] Aproximadamente, la mitad de los casos han sido asociados a puntos de quiebre de la región centromérica (el lugar del cromosoma en el cual ambas cromátidas se tocan). 7 Pacientes con deleciones más grandes cercanas a la región centromérica tienden a tener mayor discapacidad motora y déficit cognitivo, y trastornos psiquiátricos, faciales y malformaciones cerebrales graves. [8][9][10] Aunque el diagnóstico se realizó y fue suficiente con cariotipo convencional, el uso de array CGH, en este caso, permitió evaluar los genes involucrados en la zona delecionada.…”
Section: Discussionunclassified