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From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia

During development, the deletion of DNA from chromosome 13's short arm (q) causes a chromosomal abnormality known as chromosome 13q deletion syndrome. Chromosome 13 terminal deletions are rare and may cause various congenital disabilities, and only a few cases have been reported in the literatu...

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Autores principales: Yost, McKenna, Johnson, Terry, Kaiser, Jacob, Yost, Connor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10499301/
https://www.ncbi.nlm.nih.gov/pubmed/37711272
http://dx.doi.org/10.7759/cureus.45168
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author Yost, McKenna
Johnson, Terry
Kaiser, Jacob
Yost, Connor
author_facet Yost, McKenna
Johnson, Terry
Kaiser, Jacob
Yost, Connor
author_sort Yost, McKenna
collection PubMed
description During development, the deletion of DNA from chromosome 13's short arm (q) causes a chromosomal abnormality known as chromosome 13q deletion syndrome. Chromosome 13 terminal deletions are rare and may cause various congenital disabilities, and only a few cases have been reported in the literature. The extent of chromosome 13q deletion syndrome changes lacks consistent clinical features, with no recorded cases of genital ambiguity until now. We report the case of a newborn male patient whose testes had descended on both sides; he had ambiguous genitalia, and the dorsal surface of his penis was attached to his scrotal sac. An abnormal karyotype (46, XY, deletion (13) q33) was discovered by using a G-banding analysis of chromosomes in a blood sample taken from the periphery, which revealed a deletion of chromosome 13 at the end of the first 10 cells. We can better characterize chromosome 13q deletions by establishing stronger correlations between karyotype and the distinctive phenotypes of haploinsufficient genes found on the chromosome.
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spelling pubmed-104993012023-09-14 From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia Yost, McKenna Johnson, Terry Kaiser, Jacob Yost, Connor Cureus Genetics During development, the deletion of DNA from chromosome 13's short arm (q) causes a chromosomal abnormality known as chromosome 13q deletion syndrome. Chromosome 13 terminal deletions are rare and may cause various congenital disabilities, and only a few cases have been reported in the literature. The extent of chromosome 13q deletion syndrome changes lacks consistent clinical features, with no recorded cases of genital ambiguity until now. We report the case of a newborn male patient whose testes had descended on both sides; he had ambiguous genitalia, and the dorsal surface of his penis was attached to his scrotal sac. An abnormal karyotype (46, XY, deletion (13) q33) was discovered by using a G-banding analysis of chromosomes in a blood sample taken from the periphery, which revealed a deletion of chromosome 13 at the end of the first 10 cells. We can better characterize chromosome 13q deletions by establishing stronger correlations between karyotype and the distinctive phenotypes of haploinsufficient genes found on the chromosome. Cureus 2023-09-13 /pmc/articles/PMC10499301/ /pubmed/37711272 http://dx.doi.org/10.7759/cureus.45168 Text en Copyright © 2023, Yost et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Yost, McKenna
Johnson, Terry
Kaiser, Jacob
Yost, Connor
From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia
title From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia
title_full From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia
title_fullStr From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia
title_full_unstemmed From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia
title_short From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia
title_sort from genes to ambiguity: a case study exploring the enigmatic connection between chromosome 13q deletion syndrome and ambiguous genitalia
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10499301/
https://www.ncbi.nlm.nih.gov/pubmed/37711272
http://dx.doi.org/10.7759/cureus.45168
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