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Mosaic and partial monosomy of chromosome 21 in a case with low platelets count

BACKGROUND: Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. CASE REPORT: In this repo...

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Autores principales: Hashemi, A, Sheikhha, MH, Manouchehri, MA, Kalantar, SM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Sadoughi University of Medical Sciences 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980021/
https://www.ncbi.nlm.nih.gov/pubmed/24734163
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author Hashemi, A
Sheikhha, MH
Manouchehri, MA
Kalantar, SM
author_facet Hashemi, A
Sheikhha, MH
Manouchehri, MA
Kalantar, SM
author_sort Hashemi, A
collection PubMed
description BACKGROUND: Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. CASE REPORT: In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Hospital,Yazd, Iran, due to multiple congenital anomalies such as: frontal bossing, horizontal palpebral fissure, small deepest eyes, aplastic nasal bridge, broad philtrum, low set ears, large prominent ears, short neck, microcephaly, pectus excavatum, mental retardation, and dislocation of the hip. In peripheral blood smear, platelets were decreased but other hematological levels were normal. The karyotype result indicated a mosaic monosomy and partial monosomy of chromosome 21. CONCLUSION: According to this and other case reports of monosomy of chromosome 21, this disease had very low prevalence rate among live infants or children. The present case had some congenital anomalies that present with abnormal medical condition. Therefore these patients must be evaluated for chromosomal studies.
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spelling pubmed-39800212014-04-14 Mosaic and partial monosomy of chromosome 21 in a case with low platelets count Hashemi, A Sheikhha, MH Manouchehri, MA Kalantar, SM Iran J Ped Hematol Oncol Case Report BACKGROUND: Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. CASE REPORT: In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Hospital,Yazd, Iran, due to multiple congenital anomalies such as: frontal bossing, horizontal palpebral fissure, small deepest eyes, aplastic nasal bridge, broad philtrum, low set ears, large prominent ears, short neck, microcephaly, pectus excavatum, mental retardation, and dislocation of the hip. In peripheral blood smear, platelets were decreased but other hematological levels were normal. The karyotype result indicated a mosaic monosomy and partial monosomy of chromosome 21. CONCLUSION: According to this and other case reports of monosomy of chromosome 21, this disease had very low prevalence rate among live infants or children. The present case had some congenital anomalies that present with abnormal medical condition. Therefore these patients must be evaluated for chromosomal studies. Shahid Sadoughi University of Medical Sciences 2014 2014-03-15 /pmc/articles/PMC3980021/ /pubmed/24734163 Text en © 2014 Iranian Journal of Pediatric Hematology Oncology This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hashemi, A
Sheikhha, MH
Manouchehri, MA
Kalantar, SM
Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
title Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
title_full Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
title_fullStr Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
title_full_unstemmed Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
title_short Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
title_sort mosaic and partial monosomy of chromosome 21 in a case with low platelets count
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980021/
https://www.ncbi.nlm.nih.gov/pubmed/24734163
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