Molecular characterization of 18p deletions: Evidence for a breakpoint cluster

Schaub, Rebecca L.; Reveles, Xavier T.; Baillargeon, Jacques; Leach, Robin J.; Cody, Jannine D.

doi:10.1097/00125817-200201000-00003

Cited by 36 publications

(41 citation statements)

References 28 publications

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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%

“…2,3 Monosomies of the entire short arm as well as partial monosomies 18p have been reported. 4 Frequent clinical features of 18pÀ syndrome include moderate to severe mental retardation, post-natal growth retardation, a round face, downturned corners of the mouth and dysplastic ears. Microcephaly, epicanthic folds, ptosis, hypertelorism, micrognathia, dental anomalies, short neck and pterygium colli are found less frequently.…”

Section: Introductionmentioning

confidence: 99%

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Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

et al. 2006

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Molecular karyotyping holds the promise of improving genotype -phenotype correlations for frequent chromosome conditions such as the 18pÀ syndrome. In spite of more than 150 reported cases with deletions in 18p, no reliable phenotype map for the characteristic clinical findings such as mental retardation, post-natal growth retardation and typical facial features has been established yet. Here, we report on four patients with partial monosomy 18p of different sizes owing to unbalanced translocations that were thoroughly characterised clinically and by molecular karyotyping. One patient had a terminal deletion of 1.6 Mb in 18p and a trisomy of 8q24.23-qter as determined by array-based comparative genomic hybridisation and large insert clone fluorescent in situ hybridisation. In two sibs and a fourth patient, cytogenetic and molecular-cytogenetic analyses showed the terminal deletions in 18p (8.0 and 13.84 Mb, respectively) to be accompanied by partial trisomies of 20p. Literature analyses of typical phenotypic features of 18pÀ, 8qþ and 20pþ syndromes allowed the attribution of clinical findings in our patients to the respective chromosomal aberration. Based on these data, we propose a phenotype map for several clinical features of the 18pÀ syndrome: Round face was tentatively mapped to the distal 1.6 Mb of 18p; post-natal growth retardation and seizures to the distal 8 Mb and ptosis and short neck to the proximal half of 18p.

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Section: Discussionmentioning

confidence: 80%

Section: Casementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

et al. 2006

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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.…”

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confidence: 99%

A gene dosage map of Chromosome 18: A map with clinical utility

Cody

Carter

Sebold

et al. 2009

Genetics in Medicine

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Purpose: Microarray technology has revolutionized the field of clinical genetics with the ability to detect very small copy number changes. However, challenges remain in linking genotype with phenotype. Our goal is to enable a clinical geneticist to align the molecular karyotype information from an individual patient with the annotated genomic content, so as to provide a clinical prognosis. Methods: We have combined data regarding copy number variations, microdeletion syndromes, and classical chromosome abnormalities, with the sparse but growing knowledge about the biological role of specific genes to create a genomic map of Chromosome 18 with clinical utility. Results: We have created a draft model of such a map, drawing from our longstanding interest in and data regarding the abnormalities of Chromosome 18. Conclusion: We have taken the first step toward creating a genomic map that can be used by the clinician in counseling and directing preventive or symptomatic care of individuals with Chromosome 18 abnormalities. Genet Med 2009:11(11):778 -782.

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“…[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

Síndrome por deleción 18p diagnosticado por hibridación genómica comparada. Presentación de un caso con fenotipo leve

Pachajoa

2016

Arch Argent Pediat

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Presentación de casos clínicos RESUMENEl síndrome por deleción del brazo corto del cromosoma 18 es poco frecuente. Se caracteriza por retardo mental, retardo en el crecimiento, malformaciones craneofaciales, que incluyen orejas largas, microcefalia y cuello corto. La variabilidad fenotípica va desde anomalías congénitas menores a holoprosencefalia. Se presenta un caso de una niña de 10 años con deleción del brazo corto del cromosoma 18 (18p11.32-p11.21), caracterizado por citiogenética convencional e hibridación genómica comparada. Palabras clave: cromosoma 18, síndrome 18p, deleción cromosómica. ABSTRACTDeletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization.

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Molecular characterization of 18p deletions: Evidence for a breakpoint cluster

Cited by 36 publications

References 28 publications

Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

A gene dosage map of Chromosome 18: A map with clinical utility

Síndrome por deleción 18p diagnosticado por hibridación genómica comparada. Presentación de un caso con fenotipo leve

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