Large duplication 4q25–q34 with mild clinical effect

Elghezal, Hatem; Sendi, Halima Sennana; Monastiri, K.; Lapierre, Jean-Michel; Romdhane, Samira Ibala; Mougou, Soumaya; Saâd, Ali

doi:10.1016/j.anngen.2004.07.007

Cited by 24 publications

(36 citation statements)

References 7 publications

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“…To our knowledge, 17 studies have described the pure 4q duplication region covering the 4q22q32 region [22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38] 30,31 Contrary to the reports of these researchers, we did not observe thumb or renal abnormalities in our patients having a 4q22q32 duplication. To our knowledge, the present study is the first report of a pure and recurrent 4q duplication investigated with CGH microarray technology and microsatellite analysis.…”

Section: Discussioncontrasting

confidence: 56%

“…To our knowledge, the present study is the first report of a pure and recurrent 4q duplication investigated with CGH microarray technology and microsatellite analysis. CGH on chromosomes has been used in the study by Elghezal et al 32 CGH array analysis allowed a more precise description of distal and proximal break points because of a better resolution of 15 kb (average probe spacing). Gene analysis using the UCSC Genome Browser database (http://genome.ucsc.edu/) of CGH microarray results listed more than 110 duplicated genes.…”

Section: Discussionmentioning

confidence: 99%

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Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

et al. 2010

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A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few studies have described germinal mosaicism. In this study, we report on two siblings who carried identical pure and direct interstitial 4q22.2q32.3 duplication. Procedure investigations included complete clinical description, conventional cytogenetic analysis, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH) array experiments and microsatellite study searching for parental origin of the duplication. Microarray CGH and further FISH experiments with BAC clones showed the same 70.8 Mb direct duplication, dup(4)(q22.2q32.3). Molecular studies of the 4q duplication were consistent with maternal origin associated with mitotic or meiotic rearrangements. This structural chromosomal aberration was associated in both cases with increased nuchal translucency, growth retardation and dysmorphy. Cardiopathy and lung malformations were only evident in the first case. These clinical manifestations are similar to those previously reported in previous studies involving pure 4q trisomy of the same region, except for thumb and renal abnormalities that were not obvious in the presented cases. The amplified region included genes involved in neurological development (NEUROG2, MAB21L2, PCDH10/18 and GRIA2). The recurrent 4q duplication in these siblings is consistent with a maternal ovarian germinal mosaicism. This is the first description of germinal mosaicism for a large chromosomal duplication and highlights that genetic counselling for apparently de novo chromosome aberration should be undertaken with care.

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Section: Discussioncontrasting

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

et al. 2010

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“…Moreover, Goodman et al [1997] reported a duplication of 4q31.3-q32.3 with mild phenotypic effect. Even when the duplication is large in size (4q25-q34), the clinical effect could be very mild [Elghezal et al, 2004]. These findings suggested that the individuals with such duplications might not, in some cases, be brought to clinical attention and therefore not diagnosed.…”

Section: Discussionmentioning

confidence: 92%

“…Three patients carrying 4q31.3-q33 duplications with apparently no phenotypic effects [Maltby et al, 1999], and patients with 4q25-q34 [Elghezal et al, 2004] and 4q28.1-q35 [Lin et al, 2004] duplication were excluded due to the differences in the phenotype and the size of duplications.…”

Section: Patients Not Included In the Reviewmentioning

confidence: 99%

4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations

Wang

Fisker

Dang

et al. 2009

American J of Med Genetics Pt A

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Duplications of 4q31-qter have been rarely documented; moreover, triplications at this chromosomal region have never been described. Here we report a family through two generations (mother and three sons) with triplication of 4q32.1-q32.2. Their characteristic features include: macrocephaly, a long midface, hypoplastic zygoma, wide nasal bridge, short nose, downslanting and small palpebral fissures, and small, low-set and squared-off ears. Among the three sons, two had Hirschsprung disease, and one had constipation at birth. The phenotype of triplication of 4q32.1-q32.2 appeared to be distinct from duplications of 4q31-qter.

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“…12 Elghezal y cols., publicaron acerca de otro niño sano con una duplicación aún más larga (4q25-q34), cuya única manifestación fenotípica fue un leve retraso mental asociado a un déficit del lenguaje. 13 En el análisis comparativo realizado por estos últimos autores se sugiere que la región 4q31-q33 podría estar involucrada en el desarrollo de las características dismórficas típicas de esta duplicación, mientras que la banda distal 4q35 podría asociarse con el desarrollo de microcefalia, retraso mental grave y retraso de crecimiento. Shashi y cols., describieron el caso de un paciente con duplicación parcial 4q12-q13 y microcefalia, retraso mental y anomalías faciales leves.…”

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Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral

Collia¹,

Antacle²,

Veloso³

et al. 2012

Arch Argent Pediat

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Presentación de casos clínicos RESUMENLa trisomía parcial 4q es una enfermedad cromosómica rara causada por la duplicación de una porción (comúnmente la distal) del brazo largo del cromosoma 4. En la mayoría de los casos resulta de una translocación balanceada de uno de los progenitores, siendo menos frecuente la aparición de novo. Los pacientes presentan diversas características clínicas según el tamaño y sitio específico de la región comprometida. Su asociación con patologías oculares ha sido escasamente comunicada. Presentamos el primer caso de un paciente pediátrico de sexo masculino con una duplicación parcial de novo del segmento proximal del brazo largo del cromosoma 4 (4q12-q22) y coloboma bilateral de iris, retina y nervio óptico. Palabras claves: duplicación 4q, coloboma ocular bilateral, pediatría. SUMMARYPartial trisomy 4q is a rare chromosomal disease. It involves duplication of a portion (particularly the distal one) of the long arm of chromosome 4. In most cases results from a balanced translocation on one single progenitor. The "de novo" appearance is less common. Depending on the size and location of duplicated genetic material, patients may have different clinical manifestations. Associated eye pathology has been scarcely informed. We report on a novel case of a male infant with a proximal "de novo" 4q12-q22 duplication and bilateral iris, retinal and optic nerve coloboma. Key words: 4q duplication, bilateral ocular coloboma, pediatrics.http://dx.doi.org/10.5546/aap.2012.e59 INTRODUCCIÓNLa trisomía parcial 4q es una enfermedad cromosómica rara causada por la duplicación de una porción (comúnmente 4q22-q35) del brazo largo del cromosoma 4. En la mayoría de los casos resulta de una translocación balanceada de uno de los progenitores, siendo menos frecuente la aparición de novo. 1-3Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral Los pacientes presentan diversas característi-cas clínicas según el tamaño y sitio específico de la región comprometida, a saber: anomalías faciales, del pie y mano (pulgares); discapacidad auditiva; convulsiones; microcefalia; retraso mental; trastornos en el crecimiento y desarrollo psicomotor; reflujo ureterovesical; hernia inguinal o umbilical; criptorquidia; malformaciones cardíacas y renales. No obstante, su asociación con patologías oculares ha sido escasamente comunicada. 4La región duplicada es muy variable en los distintos casos, pero se han publicado algunas correlaciones genotipo-fenotipo.5 En términos generales, los pacientes con pequeñas duplicaciones parciales 4q11-q13 son sanos y de estatura normal. La única manifestación clínica aparente es un retraso en el desarrollo motor y diferentes grados de dificultad en el aprendizaje. Cuando la duplicación es más grande y compromete a las bandas cromosómicas 4q21 o 4q22, es más probable que los pacientes presenten problemas cardía-cos o renales. 5-7

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Large duplication 4q25–q34 with mild clinical effect

Cited by 24 publications

References 7 publications

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations

Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral

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