Uneinheitlicher Phänotyp bei Partialtrisomie 4q

Vogel, Walther; Siebers, J. W.; Gunkel, J.; Haas, Bernhard; Knörr‐Gärtner, Henriette; Niethammer, D.; Noël, Bernard

doi:10.1007/bf00735742

Cited by 42 publications

(30 citation statements)

References 9 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: 96%

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: 96%

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

et al. 2010

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“…Thus our patient is the second case with the same partial trisomy and the first description of pure duplication without associated monosomy 1,2 . Comparison of the clinical manifestations in our patient and cases with pure duplication of 4q reported previously 7,[11][12][13][14][15] is summarized in Table 1. Our patient demonstrates majority of clinical features according to the criteria established by Halal et al 7 and Jeziorowska et al 15 .…”

Section: Discussionmentioning

confidence: 97%

A DUPLICATION dup(4)(q28q35.2) DE NOVO IN A NEWBORN

Cernakova¹,

Kvasnicova²,

Lovasova³

et al. 2006

BIOMED PAP

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We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to establish correct diagnosis because of overlap of some clinical and cytogenetic features of Nijmegen breakage syndrome (NBS) and duplication 4q in our patient. Although FISH technique detected translocation t(14q;21q) in 4 metaphases, deletion 657del5 in exon 6 of the NBS1 gene associated with NBS in Slavic population was not confirmed. We compare in this report similarity of the clinical picture of our patient, NBS cases and other patients carrying a duplication of the distal part of 4q as described in the literature.

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“…Most of these have resulted from an unbalanced segregation of a familial translocation [Schrott et al, 1974;Biederman and Bowen, 1976;Cervenka et al, 1976;Yunis et al, 1977;Andrle et al, 1979;Mattei et al, 1979;Stella et al, 1979;Fryns and Van den Berghe, 1980;Merlob et al, 1989;Nucci et al, 1990;Petit et al, 1991;Fryns et al, 1993;Duval et al, 1994;Chen et al, 1997]. These direct duplications are more reliable in deriving accurate genotype-phenotype correlation [Dutrillaux et al, 1975;Vogel et al, 1975;Taylor et al, 1977;Fryns and Van den Berghe 1980;Halal et al, 1991;Jeziorowska et al, 1993;Goodman et al, 1997;Zollino et al, 1995;Navarro et al, 1996;Muraki et al, 1997]. Pescia et al [1982] reported on a patient with mental retardation and minor anomalies with one cell line with a deletion of chromosome 4q12→q13 and a second cell line with insertion of the same segment into one chromosome 4, resulting in partial monosomy/ trisomy of chromosome 4q.…”

Section: Discussionmentioning

confidence: 99%

Partial duplication of 4q12q13 leads to a mild phenotype

et al. 1999

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We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the proximal portion of chromosome 4q are relatively unknown. A comparison of the clinical manifestations of our patient and the single published case suggests that the phenotype of this proximal 4q duplication is relatively mild. This study emphasizes the need to perform chromosome analysis in similar mildly affected/nonspecific cases.

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Uneinheitlicher Phänotyp bei Partialtrisomie 4q

Cited by 42 publications

References 9 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

A DUPLICATION dup(4)(q28q35.2) DE NOVO IN A NEWBORN

Partial duplication of 4q12q13 leads to a mild phenotype

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