2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
Abstract We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome.
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-06-01
|
| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.4289 |
| id |
doaj-6d9ed4e0cb6b4ab9a3953d3515549dae |
|---|---|
| record_format |
Article |
| spelling |
doaj-6d9ed4e0cb6b4ab9a3953d3515549dae2021-08-17T08:40:46ZengWileyClinical Case Reports2050-09042021-06-0196n/an/a10.1002/ccr3.42892q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotypeEttore Piro0Gregorio Serra1Mario Giuffrè2Ingrid Anne Mandy Schierz3Giovanni Corsello4Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D'Alessandro” University of Palermo Palermo ItalyDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D'Alessandro” University of Palermo Palermo ItalyDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D'Alessandro” University of Palermo Palermo ItalyDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D'Alessandro” University of Palermo Palermo ItalyDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D'Alessandro” University of Palermo Palermo ItalyAbstract We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome.https://doi.org/10.1002/ccr3.4289chromosome 2CNVsfollow‐upgenotype‐phenotype correlationsnewborn |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Ettore Piro Gregorio Serra Mario Giuffrè Ingrid Anne Mandy Schierz Giovanni Corsello |
| spellingShingle |
Ettore Piro Gregorio Serra Mario Giuffrè Ingrid Anne Mandy Schierz Giovanni Corsello 2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype Clinical Case Reports chromosome 2 CNVs follow‐up genotype‐phenotype correlations newborn |
| author_facet |
Ettore Piro Gregorio Serra Mario Giuffrè Ingrid Anne Mandy Schierz Giovanni Corsello |
| author_sort |
Ettore Piro |
| title |
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype |
| title_short |
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype |
| title_full |
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype |
| title_fullStr |
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype |
| title_full_unstemmed |
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype |
| title_sort |
2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype |
| publisher |
Wiley |
| series |
Clinical Case Reports |
| issn |
2050-0904 |
| publishDate |
2021-06-01 |
| description |
Abstract We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. |
| topic |
chromosome 2 CNVs follow‐up genotype‐phenotype correlations newborn |
| url |
https://doi.org/10.1002/ccr3.4289 |
| work_keys_str_mv |
AT ettorepiro 2q13microdeletionsyndromereportonanewbornwithadditionalfeaturesexpandingthephenotype AT gregorioserra 2q13microdeletionsyndromereportonanewbornwithadditionalfeaturesexpandingthephenotype AT mariogiuffre 2q13microdeletionsyndromereportonanewbornwithadditionalfeaturesexpandingthephenotype AT ingridannemandyschierz 2q13microdeletionsyndromereportonanewbornwithadditionalfeaturesexpandingthephenotype AT giovannicorsello 2q13microdeletionsyndromereportonanewbornwithadditionalfeaturesexpandingthephenotype |
| _version_ |
1721205339791032320 |