Cargando…
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception
BACKGROUND: Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations inclu...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909891/ https://www.ncbi.nlm.nih.gov/pubmed/36759911 http://dx.doi.org/10.1186/s13052-023-01421-y |
_version_ | 1784884670811340800 |
---|---|
author | Serra, Gregorio Antona, Vincenzo Cimador, Marcello Collodoro, Giorgia Guida, Marco Piro, Ettore Schierz, Ingrid Anne Mandy Verde, Vincenzo Giuffrè, Mario Corsello, Giovanni |
author_facet | Serra, Gregorio Antona, Vincenzo Cimador, Marcello Collodoro, Giorgia Guida, Marco Piro, Ettore Schierz, Ingrid Anne Mandy Verde, Vincenzo Giuffrè, Mario Corsello, Giovanni |
author_sort | Serra, Gregorio |
collection | PubMed |
description | BACKGROUND: Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations include characteristic facial dysmorphic features, microcephaly, hirsutism, congenital heart disease, genitourinary anomalies, hand and feet abnormalities, growth disturbances and intellectual disability. Most of cases are due to unbalanced translocations, inherited from a parent carrying a balanced aberration (reciprocal translocation or inversion), and rarely the genomic anomaly arises de novo. Very few studies report on the prenatal identification of such rearrangements. CASE PRESENTATION: Hereby, we report on a newborn with a rare pure duplication of the long arm of chromosome 3. Noninvasive prenatal test (cell free fetal DNA analysis on maternal blood), performed for advanced parental age and use of assisted reproductive technique, evidenced a partial 3q trisomy. Then, invasive cytogenetic (standard and molecular) investigations, carried out through amniocentesis, confirmed and defined a 3q27.1-q29 duplication spanning 10.9 Mb, and including about 80 genes. Our patient showed clinical findings (typical facial dysmorphic features, esotropia, short neck, atrial septal defect, hepatomegaly, mild motor delay) compatible with partial trisomy 3q syndrome diagnosis, in addition to pre- and postnatal overgrowth. CONCLUSIONS: Advanced parental age increases the probability of chromosomal and/or genomic anomalies, while ART that of epigenomic defects. Both conditions, thus, deserve more careful prenatal monitoring and screening/diagnostic investigations. Among the latter, cell free fetal DNA testing can detect large segmental aneuploidies, along with chromosomal abnormalities. It identified in our patient a wide 3q rearrangement, then confirmed and defined through invasive molecular cytogenetic analysis. Neonatologists and pediatricians must be aware of the potential risks associated to duplication syndromes. Therefore, they should offer to affected subjects an adequate management and early and careful follow-up. These may be able to guarantee to patients satisfactory growth and development profiles, prevent and/or limit neurodevelopmental disorders, and timely recognition of complications. |
format | Online Article Text |
id | pubmed-9909891 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-99098912023-02-10 New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception Serra, Gregorio Antona, Vincenzo Cimador, Marcello Collodoro, Giorgia Guida, Marco Piro, Ettore Schierz, Ingrid Anne Mandy Verde, Vincenzo Giuffrè, Mario Corsello, Giovanni Ital J Pediatr Case Report BACKGROUND: Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations include characteristic facial dysmorphic features, microcephaly, hirsutism, congenital heart disease, genitourinary anomalies, hand and feet abnormalities, growth disturbances and intellectual disability. Most of cases are due to unbalanced translocations, inherited from a parent carrying a balanced aberration (reciprocal translocation or inversion), and rarely the genomic anomaly arises de novo. Very few studies report on the prenatal identification of such rearrangements. CASE PRESENTATION: Hereby, we report on a newborn with a rare pure duplication of the long arm of chromosome 3. Noninvasive prenatal test (cell free fetal DNA analysis on maternal blood), performed for advanced parental age and use of assisted reproductive technique, evidenced a partial 3q trisomy. Then, invasive cytogenetic (standard and molecular) investigations, carried out through amniocentesis, confirmed and defined a 3q27.1-q29 duplication spanning 10.9 Mb, and including about 80 genes. Our patient showed clinical findings (typical facial dysmorphic features, esotropia, short neck, atrial septal defect, hepatomegaly, mild motor delay) compatible with partial trisomy 3q syndrome diagnosis, in addition to pre- and postnatal overgrowth. CONCLUSIONS: Advanced parental age increases the probability of chromosomal and/or genomic anomalies, while ART that of epigenomic defects. Both conditions, thus, deserve more careful prenatal monitoring and screening/diagnostic investigations. Among the latter, cell free fetal DNA testing can detect large segmental aneuploidies, along with chromosomal abnormalities. It identified in our patient a wide 3q rearrangement, then confirmed and defined through invasive molecular cytogenetic analysis. Neonatologists and pediatricians must be aware of the potential risks associated to duplication syndromes. Therefore, they should offer to affected subjects an adequate management and early and careful follow-up. These may be able to guarantee to patients satisfactory growth and development profiles, prevent and/or limit neurodevelopmental disorders, and timely recognition of complications. BioMed Central 2023-02-09 /pmc/articles/PMC9909891/ /pubmed/36759911 http://dx.doi.org/10.1186/s13052-023-01421-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Serra, Gregorio Antona, Vincenzo Cimador, Marcello Collodoro, Giorgia Guida, Marco Piro, Ettore Schierz, Ingrid Anne Mandy Verde, Vincenzo Giuffrè, Mario Corsello, Giovanni New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception |
title | New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception |
title_full | New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception |
title_fullStr | New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception |
title_full_unstemmed | New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception |
title_short | New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception |
title_sort | new insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909891/ https://www.ncbi.nlm.nih.gov/pubmed/36759911 http://dx.doi.org/10.1186/s13052-023-01421-y |
work_keys_str_mv | AT serragregorio newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT antonavincenzo newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT cimadormarcello newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT collodorogiorgia newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT guidamarco newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT piroettore newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT schierzingridannemandy newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT verdevincenzo newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT giuffremario newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception AT corsellogiovanni newinsightsonpartialtrisomy3qsyndromedenovo3q271q29duplicationinanewbornwithpreandpostnatalovergrowthandassistedreproductiveconception |