De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.
4p
agenesis
gastroschisis
inv dup del
lung hypoplasia
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
14
02
2020
accepted:
07
05
2020
entrez:
10
9
2021
pubmed:
11
9
2021
medline:
11
9
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34504730
doi: 10.1055/s-0040-1713156
pii: 2000022
pmc: PMC8416190
doi:
Types de publication
Case Reports
Langues
eng
Pagination
245-249Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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