408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status

Gabriele Tonni; Maria Bellotti; Marcella Palmisano; Viola Alesi; Marta Bertoli; Maria Paola Bonasoni

doi:10.1111/cga.12078

408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status

Gabriele Tonni, Maria Bellotti, Marcella Palmisano, Viola Alesi, Marta Bertoli, Maria Paola Bonasoni

Research output: Contribution to journal › Article › peer-review

Abstract

Exomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic villus sampling showed normal male fetus. Follow up scan at 16 and 18 weeks of gestation confirmed the severe exomphalos and detected micrognathia and tetralogy of Fallot. Array comparative genomic hybridization (a-CGH) further demonstrated a 408kb 15q11.2 microduplication, with the father-to-be as healthy carrier. This is the first case of an association between 15q11.2 micorduplication and fetal sonographic anomalies. Genetic counseling for estimation of recurrent risk of congenital anomalies is discussed.

Original language	English
Pages (from-to)	65-70
Number of pages	6
Journal	Congenital Anomalies
Volume	55
Issue number	1
DOIs	https://doi.org/10.1111/cga.12078
Publication status	Published - Feb 1 2015
Externally published	Yes

Keywords

Array-comparative genomic hybridization
Exomphalos
Microduplication
Prenatal ultrasound diagnosis
Tetralogy of Fallot

ASJC Scopus subject areas

Developmental Biology
Pediatrics, Perinatology, and Child Health
Embryology
Medicine(all)

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Tonni, G., Bellotti, M., Palmisano, M., Alesi, V., Bertoli, M., & Bonasoni, M. P. (2015). 408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status. Congenital Anomalies, 55(1), 65-70. https://doi.org/10.1111/cga.12078

408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype : A genetic counseling dilemma in paternal carrier status. / Tonni, Gabriele; Bellotti, Maria; Palmisano, Marcella; Alesi, Viola; Bertoli, Marta; Bonasoni, Maria Paola.

In: Congenital Anomalies, Vol. 55, No. 1, 01.02.2015, p. 65-70.

Research output: Contribution to journal › Article › peer-review

Tonni, G, Bellotti, M, Palmisano, M, Alesi, V, Bertoli, M & Bonasoni, MP 2015, '408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status', Congenital Anomalies, vol. 55, no. 1, pp. 65-70. https://doi.org/10.1111/cga.12078

Tonni G, Bellotti M, Palmisano M, Alesi V, Bertoli M, Bonasoni MP. 408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status. Congenital Anomalies. 2015 Feb 1;55(1):65-70. https://doi.org/10.1111/cga.12078

Tonni, Gabriele ; Bellotti, Maria ; Palmisano, Marcella ; Alesi, Viola ; Bertoli, Marta ; Bonasoni, Maria Paola. / 408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype : A genetic counseling dilemma in paternal carrier status. In: Congenital Anomalies. 2015 ; Vol. 55, No. 1. pp. 65-70.

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abstract = "Exomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic villus sampling showed normal male fetus. Follow up scan at 16 and 18 weeks of gestation confirmed the severe exomphalos and detected micrognathia and tetralogy of Fallot. Array comparative genomic hybridization (a-CGH) further demonstrated a 408kb 15q11.2 microduplication, with the father-to-be as healthy carrier. This is the first case of an association between 15q11.2 micorduplication and fetal sonographic anomalies. Genetic counseling for estimation of recurrent risk of congenital anomalies is discussed.",

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408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status

Abstract

Keywords

ASJC Scopus subject areas

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