Duplicación parcial del cromosoma 4q (q31, q35): síndrome aurículo-acro-renal

Romero, Marta; Mialdea, O. García; Tapia, M.aE. Cabezas; Piñera, J. Gonzálvez

doi:10.1157/13117707

Cited by 2 publications

(1 citation statement)

References 11 publications

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“…Terminal 4q partial trisomies are represented by Cases 13 [ 30 ], 14 [ 30 ], 20 [ 36 ], 21 [ 37 ], 23 [ 38 ], 26 [ 39 ], 28 [ 41 ], 29 [ 42 ], 31 [ 44 ], 37 [ 49 ], 41 [ 53 ], 42 [ 54 ], 43 [ 55 ], 44 [ 56 ], 45 [ 57 ], 47 [ 59 ], 48 [ 59 ], and 49 [ 60 ] ( Table 2 , Figure 8 ). The majority of these encompassed the 4q31-q35(qter) region.…”

Section: Discussionmentioning

confidence: 99%

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Popescu

Grămescu

Caba

et al. 2021

Genes

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We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26–q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy’s phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.

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Section: Discussionmentioning

confidence: 99%

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Popescu

Grămescu

Caba

et al. 2021

Genes

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Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion

et al. 2010

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Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control. (Korean J Lab Med 2010;30:89-92)

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Duplicación parcial del cromosoma 4q (q31, q35): síndrome aurículo-acro-renal

Cited by 2 publications

References 11 publications

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion

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