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

Mun, Se Jin; Cho, Eun Hae; Chey, Myoung-Jae; Shim, Gyu-Hong; Shin, Bo-Moon; Lee, Rae-Kyung; Ko, Ji-Kyung; Yoo, Soo Jin

doi:10.3343/kjlm.2010.30.1.89

Cited by 4 publications

(2 citation statements)

References 15 publications

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“…RP11-354H17 and RP11-45F23 are the last balanced and the first duplicated clones, respectively. To our knowledge, in the literature are reported only three other familial WHS cases (Table 1) caused by the presence of a rec(4) with partial monosomy of the distal 4p segment and partial trisomy of the distal 4q region, resulting from meiotic recombination in a parent carrier of a pericentric inversion of large size [3–5]. It is well known that a crossing-over within large inverted segment is very likely to take place and, as demonstrated also by the presence of two patients in our family, the genetic risk to heterozygotes for the large inv(4) would be high.…”

Section: Resultsmentioning

confidence: 99%

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Malvestiti¹,

Benedicenti

Toffol³

et al. 2013

Case Reports in Genetics

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Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.

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Section: Resultsmentioning

confidence: 99%

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Malvestiti¹,

Benedicenti

Toffol³

et al. 2013

Case Reports in Genetics

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“…In many cases, both metaphase fluorescence in situ hybridization and array-CGH have been recently used to check for chromosomal anomaly. [17][18][19] Both methods can be useful for identification of 4p16.3 deletion. Nevertheless, the array-CGH study is more informative to determine the length of either deletion or duplication associated with the clinical phenotype.…”

Section: )mentioning

confidence: 99%

The Wolf-Hirschhorn Syndrome in Fetal Autopsy - A Case Report -

2011

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Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17 +0 weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2→4pter and gain of 18q21.1→18qter, suggesting 46,XY,der(4) t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.

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Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

Hemmat

Anguiano

et al. 2013

Mol Cytogenet

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BackgroundRecombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported.ResultWe describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome. The patient was a one-year old boy with consistent clinical features. Conventional cytogenetics and FISH documented a recombinant chromosome 4, derived from a paternal pericentric inversion, leading to partial trisomy 4p and partial monosomy of 4q. Array-CGH, performed to further characterize the rearranged chromosome 4 and delineate the breakpoints, documented a small (4.36 Mb) 4q35.1 terminal deletion and a large (23.81 Mb) 4p15.1 terminal duplication. Genotype-phenotype analysis of 10 previously reported cases and the present case indicated relatively consistent clinical features and breakpoints. This consistency was more evident in our case and another characterized by array-CGH, where both showed the common breakpoints of p15.1 and q35.1. A genotype-phenotype correlation study between rec(4), dup(4p), and del(4q) syndromes revealed that urogenital and cardiac defects are probably due to the deletion of 4q whereas the other clinical features are likely due to 4p duplication.ConclusionOur findings support that the clinical features of patients with rec(4) are relatively consistent and specific to the regions of duplication or deletion. Recombinant chromosome 4 syndrome thus appears to be a discrete entity that can be suspected on the basis of clinical features or specific deleted and duplicated chromosomal regions.

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

Cited by 4 publications

References 15 publications

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

The Wolf-Hirschhorn Syndrome in Fetal Autopsy - A Case Report -

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

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