MARC details
| 000 -LEADER |
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| fixed length control field |
03261nam a22004457a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
240117s20242024 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
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| International Standard Serial Number |
2755-1520 |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
luae136 [pii] |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
PMC11267221 [pmc] |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
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| PMID |
39049863 |
| 245 ## - TITLE STATEMENT |
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| Title |
DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis. |
| 251 ## - Source |
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| Source |
JCEM Case Reports. 2(7):luae136, 2024 Jul. |
| 252 ## - Abbreviated Source |
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| Abbreviated source |
JCEM Case Rep. 2(7):luae136, 2024 Jul. |
| 253 ## - Journal Name |
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| Journal name |
JCEM case reports |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Year |
2024 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Publication date |
2024 Jul |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Publication status |
epublish |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Medline status |
PubMed-not-MEDLINE |
| 266 ## - Date added to catalog |
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| Date Medline record created |
2024/07/25 04:44 |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
22q11.2 deletion syndrome (22.q11.2 DS) is a genetic syndrome resulting from a microdeletion on chromosome 22. It has a diverse array of manifestations, and most cases are diagnosed early in childhood. We present the case of a 38-year-old female born in a developing country who presented to our clinic to establish care for a history of primary hypothyroidism. She was clinically and biochemically euthyroid on thyroid supplementation. She was also noted to have hypocalcemia in the setting of low PTH, for which the patient was previously prescribed calcitriol. Given a history of cleft palate, abnormal facial features, mild recurrent sinopulmonary infections, and her endocrine history (including short stature with height in the 6th percentile), genetic testing was obtained. She was diagnosed with a heterozygous whole gene deletion of the TBX1 gene. Additional genetic evaluation demonstrated a 2.6-Mb microdeleted segment of the 22a11.2 region encompassing 62 genes. The patient was referred to cardiology for evaluation of cardiac involvement given a history of tachyarrhythmia. This case highlights challenges in diagnosis and the implications of a delayed diagnosis of 22.q11.2 DS. Copyright © The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. |
| 546 ## - LANGUAGE NOTE |
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| Language note |
English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Indexing |
Automated |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
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| Institution |
MedStar Washington Hospital Center |
| 656 ## - INDEX TERM--OCCUPATION |
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| Department |
Hematology/Oncology |
| 656 ## - INDEX TERM--OCCUPATION |
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| Department |
Internal Medicine Residency |
| 656 ## - INDEX TERM--OCCUPATION |
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| Department |
Medicine/Endocrinology |
| 656 ## - INDEX TERM--OCCUPATION |
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| Department |
MedStar Georgetown University Hospital/MedStar Washington Hospital Center |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Case Reports |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Kuenstner, William |
| Institution Code |
MGUH |
| Program |
Internal Medicine Residency |
| Degree |
MD |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Rapisuwon, Suthee |
| Institution Code |
MWHC |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Shobab, Leila |
| Institution Code |
MWHC |
| 790 ## - Authors |
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| All authors |
Kuenstner W , Rapisuwon S , Shobab L |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
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| DOI |
<a href="https://dx.doi.org/10.1210/jcemcr/luae136">https://dx.doi.org/10.1210/jcemcr/luae136</a> |
| Public note |
https://dx.doi.org/10.1210/jcemcr/luae136 |
| 858 ## - ORCID |
|---|
| ORCID text |
Kuenstner, William |
| Orcid |
<a href="https://orcid.org/0000-0002-7248-8012">https://orcid.org/0000-0002-7248-8012</a> |
| Name |
https://orcid.org/0000-0002-7248-8012 |
| -- |
https://orcid.org/0000-0002-1389-925X |
| -- |
https://orcid.org/0000-0002-6534-810X |
| 858 ## - ORCID |
|---|
| ORCID text |
Rapisuwon, Suthee |
| Orcid |
<a href="https://orcid.org/0000-0002-1389-925X">https://orcid.org/0000-0002-1389-925X</a> |
| Name |
https://orcid.org/0000-0002-7248-8012 |
| -- |
https://orcid.org/0000-0002-1389-925X |
| -- |
https://orcid.org/0000-0002-6534-810X |
| 858 ## - ORCID |
|---|
| ORCID text |
Shobab, Leila |
| Orcid |
<a href="https://orcid.org/0000-0002-6534-810X">https://orcid.org/0000-0002-6534-810X</a> |
| Name |
https://orcid.org/0000-0002-7248-8012 |
| -- |
https://orcid.org/0000-0002-1389-925X |
| -- |
https://orcid.org/0000-0002-6534-810X |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Journal Article |
| Item type description |
Article |
