Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chrom...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2016/8760504 |
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| author | Gioconda Manassero-Morales Denisse Alvarez-Manassero Alfredo Merino-Luna |
| author_facet | Gioconda Manassero-Morales Denisse Alvarez-Manassero Alfredo Merino-Luna |
| author_sort | Gioconda Manassero-Morales |
| collection | DOAJ |
| description | Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis. |
| format | Article |
| id | doaj-art-3c60272c5d5c4cfab05792f91298915d |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-3c60272c5d5c4cfab05792f91298915d2025-02-03T01:07:53ZengWileyCase Reports in Pediatrics2090-68032090-68112016-01-01201610.1155/2016/87605048760504Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal AbnormalityGioconda Manassero-Morales0Denisse Alvarez-Manassero1Alfredo Merino-Luna2Genetics Division, Instituto Nacional de Salud del Niño, San Borja, PeruSchool of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, PeruSchool of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, PeruIntroduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.http://dx.doi.org/10.1155/2016/8760504 |
| spellingShingle | Gioconda Manassero-Morales Denisse Alvarez-Manassero Alfredo Merino-Luna Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality Case Reports in Pediatrics |
| title | Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality |
| title_full | Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality |
| title_fullStr | Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality |
| title_full_unstemmed | Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality |
| title_short | Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality |
| title_sort | down turner syndrome a case with double monoclonal chromosomal abnormality |
| url | http://dx.doi.org/10.1155/2016/8760504 |
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