What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause
A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Instituto Universitario Hospital Italiano de Buenos Aires
2023-09-01
|
| Series: | Revista del Hospital Italiano de Buenos Aires |
| Subjects: | |
| Online Access: | https://ojs.hospitalitaliano.org.ar/index.php/revistahi/article/view/223/187 |
| _version_ | 1797666885727158272 |
|---|---|
| author | Ana Braslavsky Valentina Riveros |
| author_facet | Ana Braslavsky Valentina Riveros |
| author_sort | Ana Braslavsky |
| collection | DOAJ |
| description | A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms. |
| first_indexed | 2024-03-11T20:05:02Z |
| format | Article |
| id | doaj.art-06cf8a45b316400391890947eec59187 |
| institution | Directory Open Access Journal |
| issn | 2314-3312 |
| language | English |
| last_indexed | 2024-03-11T20:05:02Z |
| publishDate | 2023-09-01 |
| publisher | Instituto Universitario Hospital Italiano de Buenos Aires |
| record_format | Article |
| series | Revista del Hospital Italiano de Buenos Aires |
| spelling | doaj.art-06cf8a45b316400391890947eec591872023-10-03T20:07:16ZengInstituto Universitario Hospital Italiano de Buenos AiresRevista del Hospital Italiano de Buenos Aires2314-33122023-09-01433143146https://doi.org/10.51987/revhospitalbaires.v43i3.223What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic CauseAna Braslavsky0https://orcid.org/0000-0001-8169-171XValentina Riveros1https://orcid.org/0000-0003-1885-9449Servicio de Clínica pediátrica. Hospital Italiano de Buenos Aires. Buenos Aires, ArgentinaServicio de Clínica pediátrica. Hospital Italiano de Buenos Aires. Buenos Aires, ArgentinaA six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms.https://ojs.hospitalitaliano.org.ar/index.php/revistahi/article/view/223/187global developmental delaychromosome 7q11.23 microduplication syndrome |
| spellingShingle | Ana Braslavsky Valentina Riveros What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause Revista del Hospital Italiano de Buenos Aires global developmental delay chromosome 7q11.23 microduplication syndrome |
| title | What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause |
| title_full | What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause |
| title_fullStr | What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause |
| title_full_unstemmed | What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause |
| title_short | What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause |
| title_sort | what can global developmental delay conceal apropos of a case with a genetic cause |
| topic | global developmental delay chromosome 7q11.23 microduplication syndrome |
| url | https://ojs.hospitalitaliano.org.ar/index.php/revistahi/article/view/223/187 |
| work_keys_str_mv | AT anabraslavsky whatcanglobaldevelopmentaldelayconcealaproposofacasewithageneticcause AT valentinariveros whatcanglobaldevelopmentaldelayconcealaproposofacasewithageneticcause |