2015
DOI: 10.1186/s13039-015-0195-7
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Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

Abstract: Background14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet.Case PresentationHere we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypo… Show more

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Cited by 3 publications
(6 citation statements)
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“…). In the majority of published patients chromosomal abnormalities were revealed by conventional karyotyping at the 400–600 band resolution, thus, limiting precise genotype–phenotype correlation, and chromosomal microarray analysis was performed only in a few instances [Thiel et al, ; Brunetti‐Pierri et al, ; Guilherme et al, ; Qi et al, ; Sgardioli et al, ; Bose et al, ; Kurtulgan et al, ]. In order to assist clinicians in prenatal and postnatal counseling, we summarized findings from 51 informative patients (Table ).…”
Section: Resultsmentioning
confidence: 99%
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“…). In the majority of published patients chromosomal abnormalities were revealed by conventional karyotyping at the 400–600 band resolution, thus, limiting precise genotype–phenotype correlation, and chromosomal microarray analysis was performed only in a few instances [Thiel et al, ; Brunetti‐Pierri et al, ; Guilherme et al, ; Qi et al, ; Sgardioli et al, ; Bose et al, ; Kurtulgan et al, ]. In order to assist clinicians in prenatal and postnatal counseling, we summarized findings from 51 informative patients (Table ).…”
Section: Resultsmentioning
confidence: 99%
“…To date, there are only a few reports on prenatal diagnosis of partial trisomy 14q [Duckett et al, ; Chen et al, , ], many of which were terminated. While complete trisomy of chromosome 14 is lethal, pediatric cases of partial and mosaic trisomy 14 have been reported [Lynch et al, ; Shinawi et al, ; Thiel et al, ; Brunetti‐Pierri et al, ; Guilherme et al, ; Qi et al, ; Bose et al, ; Kurtulgan et al, ]. The finding of an extra, but structurally abnormal chromosome 14 in amniotic fluid analysis is extremely rare, and immediately poses multiple challenges for prenatal counseling and management.…”
Section: Discussionmentioning
confidence: 99%
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“…Partial trisomy 13 has been reported in the setting of a parental pericentric inversion, although none have been reported secondary to parental paracentric inversions (Koske‐Westphal, Pruszak‐Seel, Niss, & Passarge, ). Finally, multiple partial trisomies have been reported on chromosomes 14 and 18, all secondary to parental pericentric inversions (Asano et al, ; Israels, Hoovers, Turpijn, Wijburg, & Hennekam, ; Kurtulgan et al, ; Sgardioli, Simioni, Viguetti‐Campos, Prota, & Gil‐da‐Silva‐Lopes, ; Trunca & Opitz, ; Vianna‐Morgante, Nozaki, Ortega, Coates, & Yamamura, ). In this report, we describe the first documented case of a female with partial trisomy 13 which occurred secondary to a parental paracentric inversion.…”
Section: Introductionmentioning
confidence: 99%