J Pediatr Genet 2021; 10(03): 245-249
DOI: 10.1055/s-0040-1713156
Case Report

De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies

1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
,
Laura Bernardini
2   Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Foggia, Italy
,
Cinzia Lombardi
1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
,
Maria Grazia Giuffrida
2   Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Foggia, Italy
,
Maria Ciavarella
1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
,
Anna Capalbo
2   Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Foggia, Italy
,
Marianna Maioli
1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
,
Francesca Scarano
1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
,
Giuseppina Cantalupo
1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
,
Mariateresa Falco
1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
,
Gioacchino Scarano
1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
,
Fortunato Lonardo
1   Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy
› Institutsangaben
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Abstract

Inverted duplications deletions are rare, complex, and nonrecurrent chromosomal rearrangements associated with a variable phenotype. In this case report, we described the phenotype and genotype of a 14-week-old male fetus, who was aborted after discovery of multiple anomalies (septal cystic hygroma, open abdominal wall, and a nonidentifiable lower limb). At autopsy, fluorescence in situ hybridization and array comparative genomic hybridization identified an inverted duplication with terminal deletion of 4p [46,XY,der(4)del(p16.3)dup(4)(p15.2p16.3)]. Only five genotypically similar cases have been reported, and we hope our case contribution will add meaningful to the body of knowledge.



Publikationsverlauf

Eingereicht: 14. Februar 2020

Angenommen: 07. Mai 2020

Artikel online veröffentlicht:
19. Juni 2020

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