A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

Abstract Background Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q/monosomy 13q. In this report, we describe a second patient with a similar rearrangement arising from a paternal balanced translocati...

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Autores principales:	Alyssa C. M. Joynt, Ashish R. Deshwar, Jessica Zon, Lucie Dupuis, Diane K. Wherrett, Roberto Mendoza‐Londono
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	brain anomalies clinical genetics endocrinology growth hormone deficiency unbalanced translocation Genetics QH426-470
Acceso en línea:	https://doaj.org/article/1cbe99f8c96c431e9902bb75e780f41a
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spelling	oai:doaj.org-article:1cbe99f8c96c431e9902bb75e780f41a2021-11-21T19:38:53ZA rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies2324-926910.1002/mgg3.1821https://doaj.org/article/1cbe99f8c96c431e9902bb75e780f41a2021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1821https://doaj.org/toc/2324-9269Abstract Background Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q/monosomy 13q. In this report, we describe a second patient with a similar rearrangement arising from a paternal balanced translocation. Methods Karyotype analysis was performed on the proband and their parents. Microarray was also conducted on the proband. Results Our patient was found to have global developmental delay, distinct facial features, short stature, growth hormone deficiency, delayed puberty, and brain anomalies including a small pituitary. Karyotype and microarray analysis revealed a terminal duplication of chromosome regions 5q33.3 to 5qter and a terminal deletion of chromosome regions 13q34 to 13qter that resulted from a balanced translocation in her father. The endocrine abnormalities and neuroimaging findings have not been previously described in patients with either copy number change. Conclusions This case helps expand on the phenotype of patients with distal trisomy 5q/monosomy 13q as well as possibly providing useful information on the more common individual copy number changes.Alyssa C. M. JoyntAshish R. DeshwarJessica ZonLucie DupuisDiane K. WherrettRoberto Mendoza‐LondonoWileyarticlebrain anomaliesclinical geneticsendocrinologygrowth hormone deficiencyunbalanced translocationGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	brain anomalies clinical genetics endocrinology growth hormone deficiency unbalanced translocation Genetics QH426-470
spellingShingle	brain anomalies clinical genetics endocrinology growth hormone deficiency unbalanced translocation Genetics QH426-470 Alyssa C. M. Joynt Ashish R. Deshwar Jessica Zon Lucie Dupuis Diane K. Wherrett Roberto Mendoza‐Londono A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
description	Abstract Background Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q/monosomy 13q. In this report, we describe a second patient with a similar rearrangement arising from a paternal balanced translocation. Methods Karyotype analysis was performed on the proband and their parents. Microarray was also conducted on the proband. Results Our patient was found to have global developmental delay, distinct facial features, short stature, growth hormone deficiency, delayed puberty, and brain anomalies including a small pituitary. Karyotype and microarray analysis revealed a terminal duplication of chromosome regions 5q33.3 to 5qter and a terminal deletion of chromosome regions 13q34 to 13qter that resulted from a balanced translocation in her father. The endocrine abnormalities and neuroimaging findings have not been previously described in patients with either copy number change. Conclusions This case helps expand on the phenotype of patients with distal trisomy 5q/monosomy 13q as well as possibly providing useful information on the more common individual copy number changes.
format	article
author	Alyssa C. M. Joynt Ashish R. Deshwar Jessica Zon Lucie Dupuis Diane K. Wherrett Roberto Mendoza‐Londono
author_facet	Alyssa C. M. Joynt Ashish R. Deshwar Jessica Zon Lucie Dupuis Diane K. Wherrett Roberto Mendoza‐Londono
author_sort	Alyssa C. M. Joynt
title	A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
title_short	A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
title_full	A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
title_fullStr	A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
title_full_unstemmed	A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
title_sort	rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/1cbe99f8c96c431e9902bb75e780f41a
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A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

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