A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion

Abstract

Chromosome 14 is often involved in chromosome rearrangements, although pericentric inversions are rare. Here we report a mother carrying a pericentric inversion of chromosome 14, and her daughter with recombinant chromosome characterized by a partial distal 14q trisomy. Principal clinical findings of the child include facial anomalies, microcephaly, developmental delay, hypotonia and cardiac malformation. Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p12q31)mat[20], arr 14q31.3qter(85,427,839-106,356,482)x3. This report brings new data about clinical features of partial 14q trisomy and molecular analysis enables the visualization of genes involved in the segment duplicated.

Genotype–phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review

“…). 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 ).…”

“…Partial trisomy of the long arm of chromosome 14 is a rare chromosomal abnormality with an extremely variable phenotype ranging from mild to severe degrees of malformations [Duckett et al, ; Sliuzas et al, ; Thiel et al, ; Chen et al, , ; Brunetti‐Pierri et al, ; Dutta et al, ; Guilherme et al, ; Qi et al, ; Sgardioli et al, ; Bose et al, ; Kurtulgan et al, ], while complete non‐mosaic trisomy 14 is a lethal condition. Moreover, chromosome 14 contains a number of imprinted genes, expressed from either a maternal, or paternal homolog.…”

“…Although partial trisomy of chromosome 14 has been extensively reported, the literature is predominantly focused on postnatal findings. In addition, the majority of these individual cases describe karyotype findings prior to the advent of more sophisticated cytogenetic techniques, and only few were characterized by array comparative genomic hybridization (aCGH) [Thiel et al, ; Brunetti‐Pierri et al, ; Guilherme et al, ; Qi et al, ; Sgardioli et al, ; Bose et al, ; Kurtulgan et al, ]. Herein, we present our experience in diagnosis and genetic counseling of a family with a fetus affected by trisomy for the 14q11–q24.2 segment, review 50 cases of partial 14q trisomy reported in the literature and discuss the key points for genetic testing, counseling, and management in such cases.…”

Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature

“…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.…”

Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

“…Pericentric inversion carriers have risks for affected child or habitual abortions due to duplication deficiencies caused by crossing over during prophase of meiosis I within the inverted segment(1). Chromosome 14 often involves in chromosomal rearrangements but pericentric inversions of chromosome 14 are rare events [ 2 , 3 ]. Partial trisomy 14q resulting from parenteral pericentric inversions have been rarely described in literature.…”