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A Newborn with Panhypopituitarism and Seizures
Joint Authors
Kale, Trupti
Patil, Rachit
Pandit, Ramesh
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-02-01
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kale, Trupti& Patil, Rachit& Pandit, Ramesh. 2017. A Newborn with Panhypopituitarism and Seizures. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1145349
Modern Language Association (MLA)
Kale, Trupti…[et al.]. A Newborn with Panhypopituitarism and Seizures. Case Reports in Genetics No. 2017 (2017), pp.1-3.
https://search.emarefa.net/detail/BIM-1145349
American Medical Association (AMA)
Kale, Trupti& Patil, Rachit& Pandit, Ramesh. A Newborn with Panhypopituitarism and Seizures. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1145349
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145349