A Newborn with Panhypopituitarism and Seizures
Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituit...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/4364216 |
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| _version_ | 1832552006098616320 |
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| author | Trupti Kale Rachit Patil Ramesh Pandit |
| author_facet | Trupti Kale Rachit Patil Ramesh Pandit |
| author_sort | Trupti Kale |
| collection | DOAJ |
| description | Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population. |
| format | Article |
| id | doaj-art-440e83f206294ad49522dec6578ea41d |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-440e83f206294ad49522dec6578ea41d2025-02-03T05:59:50ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/43642164364216A Newborn with Panhypopituitarism and SeizuresTrupti Kale0Rachit Patil1Ramesh Pandit2Department of Pediatrics, Saint Anthony Hospital, Chicago, IL, USADepartment of Neurology, Medical College of Wisconsin, Milwaukee, WI, USADepartment of Pediatrics, Saint Anthony Hospital, Chicago, IL, USAInterstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population.http://dx.doi.org/10.1155/2017/4364216 |
| spellingShingle | Trupti Kale Rachit Patil Ramesh Pandit A Newborn with Panhypopituitarism and Seizures Case Reports in Genetics |
| title | A Newborn with Panhypopituitarism and Seizures |
| title_full | A Newborn with Panhypopituitarism and Seizures |
| title_fullStr | A Newborn with Panhypopituitarism and Seizures |
| title_full_unstemmed | A Newborn with Panhypopituitarism and Seizures |
| title_short | A Newborn with Panhypopituitarism and Seizures |
| title_sort | newborn with panhypopituitarism and seizures |
| url | http://dx.doi.org/10.1155/2017/4364216 |
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