A case report of Monosomy 21
monosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the latter form which is very rare,is determined by intra uterin growth retardation)IUGR),failure to thrive (FTT),prominent craniofacial,skeletal deformities and differnt degrees of delay in psychomotor ac...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Kerman University of Medical Sciences
1999-03-01
|
| Series: | Journal of Kerman University of Medical Sciences |
| Subjects: | |
| Online Access: | https://jkmu.kmu.ac.ir/article_34286_9b13194d1ab6dc38090cc3b48bed2386.pdf |
| _version_ | 1827911700370685952 |
|---|---|
| author | M.H Daei-Parizi M.H Karininejhad M GHorbanianfard |
| author_facet | M.H Daei-Parizi M.H Karininejhad M GHorbanianfard |
| author_sort | M.H Daei-Parizi |
| collection | DOAJ |
| description | monosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the latter form which is very rare,is determined by intra uterin growth retardation)IUGR),failure to thrive (FTT),prominent craniofacial,skeletal deformities and differnt degrees of delay in psychomotor activities.we report an eight years old boy who was admitted in pediatric ward(hospital No 1 of Kerman university) with the diagnosis of pneumonia.in physical examinations he was under weight,and had short stature,widening of the nose bridge,hyperthelorism,mongloid eyes,large and abnormal ears,mental retardation.the diagnosis of monosomy 21 was suspected which was confirmed by karyotyping,as mosaic form. |
| first_indexed | 2024-03-13T02:06:10Z |
| format | Article |
| id | doaj.art-6d12d58ddc59416d8a7cb962c2864e2b |
| institution | Directory Open Access Journal |
| issn | 2008-2843 |
| language | English |
| last_indexed | 2024-03-13T02:06:10Z |
| publishDate | 1999-03-01 |
| publisher | Kerman University of Medical Sciences |
| record_format | Article |
| series | Journal of Kerman University of Medical Sciences |
| spelling | doaj.art-6d12d58ddc59416d8a7cb962c2864e2b2023-07-01T05:42:16ZengKerman University of Medical SciencesJournal of Kerman University of Medical Sciences2008-28431999-03-016211211834286A case report of Monosomy 21M.H Daei-Parizi0M.H Karininejhad1M GHorbanianfardprofessorprofessormonosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the latter form which is very rare,is determined by intra uterin growth retardation)IUGR),failure to thrive (FTT),prominent craniofacial,skeletal deformities and differnt degrees of delay in psychomotor activities.we report an eight years old boy who was admitted in pediatric ward(hospital No 1 of Kerman university) with the diagnosis of pneumonia.in physical examinations he was under weight,and had short stature,widening of the nose bridge,hyperthelorism,mongloid eyes,large and abnormal ears,mental retardation.the diagnosis of monosomy 21 was suspected which was confirmed by karyotyping,as mosaic form.https://jkmu.kmu.ac.ir/article_34286_9b13194d1ab6dc38090cc3b48bed2386.pdfmonosomy 21karyotypingchromosomal abnormality |
| spellingShingle | M.H Daei-Parizi M.H Karininejhad M GHorbanianfard A case report of Monosomy 21 Journal of Kerman University of Medical Sciences monosomy 21 karyotyping chromosomal abnormality |
| title | A case report of Monosomy 21 |
| title_full | A case report of Monosomy 21 |
| title_fullStr | A case report of Monosomy 21 |
| title_full_unstemmed | A case report of Monosomy 21 |
| title_short | A case report of Monosomy 21 |
| title_sort | case report of monosomy 21 |
| topic | monosomy 21 karyotyping chromosomal abnormality |
| url | https://jkmu.kmu.ac.ir/article_34286_9b13194d1ab6dc38090cc3b48bed2386.pdf |
| work_keys_str_mv | AT mhdaeiparizi acasereportofmonosomy21 AT mhkarininejhad acasereportofmonosomy21 AT mghorbanianfard acasereportofmonosomy21 AT mhdaeiparizi casereportofmonosomy21 AT mhkarininejhad casereportofmonosomy21 AT mghorbanianfard casereportofmonosomy21 |