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Deletion of the short arm of chromosome No. 10.
A newborn male infant, whose karyotype was 46,XY,del(10)(p13) is presented. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cr...
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| Những tác giả chính: | , , , , |
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| Định dạng: | Bài viết |
| Ngôn ngữ: | English |
| Được phát hành: |
1975
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| Những chủ đề: | |
| Truy cập trực tuyến: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1013238/ https://ncbi.nlm.nih.gov/pubmed/47396 |
| Các nhãn: |
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pubmed-10132382008-04-11 Deletion of the short arm of chromosome No. 10. Shokeir, M H Ray, M Hamerton, J L Bauder, F O'Brien, H J Med Genet Research Article A newborn male infant, whose karyotype was 46,XY,del(10)(p13) is presented. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism, and abnormal dermatoglyphics. The child died at the age of 3 months in overwhelming urinary infection with septicemic complications. It is suggested that the features described here may represent a new, clinically recognizable chromosomal syndrome. 1975-03 /pmc/articles/PMC1013238/ /pubmed/47396 Text en |
| institution |
US National Library of Medicine |
| collection |
PubMed Central |
| language |
English |
| format |
Article |
| topic |
Research Article |
| spellingShingle |
Research Article Shokeir, M H Ray, M Hamerton, J L Bauder, F O'Brien, H Deletion of the short arm of chromosome No. 10. |
| description |
A newborn male infant, whose karyotype was 46,XY,del(10)(p13) is presented. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism, and abnormal dermatoglyphics. The child died at the age of 3 months in overwhelming urinary infection with septicemic complications. It is suggested that the features described here may represent a new, clinically recognizable chromosomal syndrome. |
| author |
Shokeir, M H Ray, M Hamerton, J L Bauder, F O'Brien, H |
| author_facet |
Shokeir, M H Ray, M Hamerton, J L Bauder, F O'Brien, H |
| author_sort |
Shokeir, M H |
| title |
Deletion of the short arm of chromosome No. 10. |
| title_short |
Deletion of the short arm of chromosome No. 10. |
| title_full |
Deletion of the short arm of chromosome No. 10. |
| title_fullStr |
Deletion of the short arm of chromosome No. 10. |
| title_full_unstemmed |
Deletion of the short arm of chromosome No. 10. |
| title_sort |
deletion of the short arm of chromosome no. 10. |
| publishDate |
1975 |
| url |
https://ncbi.nlm.nih.gov/pmc/articles/PMC1013238/ https://ncbi.nlm.nih.gov/pubmed/47396 |
| _version_ |
1760257431406903296 |