11p15.4 Microdeletion Associates with Hemihypertrophy
We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We repo...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/2746347 |
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| _version_ | 1832564471314251776 |
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| author | Surasak Puvabanditsin Mehrin Sadiq Marianne Jacob Maaz Jalil Kenya Cabrera Omer Choudry Rajeev Mehta |
| author_facet | Surasak Puvabanditsin Mehrin Sadiq Marianne Jacob Maaz Jalil Kenya Cabrera Omer Choudry Rajeev Mehta |
| author_sort | Surasak Puvabanditsin |
| collection | DOAJ |
| description | We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition. |
| format | Article |
| id | doaj-art-579f1c8571bc42ad86698df25650d653 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-579f1c8571bc42ad86698df25650d6532025-02-03T01:10:54ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/2746347274634711p15.4 Microdeletion Associates with HemihypertrophySurasak Puvabanditsin0Mehrin Sadiq1Marianne Jacob2Maaz Jalil3Kenya Cabrera4Omer Choudry5Rajeev Mehta6Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USADepartment of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USADepartment of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USADepartment of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USADepartment of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USADepartment of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USADepartment of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USAWe report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.http://dx.doi.org/10.1155/2018/2746347 |
| spellingShingle | Surasak Puvabanditsin Mehrin Sadiq Marianne Jacob Maaz Jalil Kenya Cabrera Omer Choudry Rajeev Mehta 11p15.4 Microdeletion Associates with Hemihypertrophy Case Reports in Genetics |
| title | 11p15.4 Microdeletion Associates with Hemihypertrophy |
| title_full | 11p15.4 Microdeletion Associates with Hemihypertrophy |
| title_fullStr | 11p15.4 Microdeletion Associates with Hemihypertrophy |
| title_full_unstemmed | 11p15.4 Microdeletion Associates with Hemihypertrophy |
| title_short | 11p15.4 Microdeletion Associates with Hemihypertrophy |
| title_sort | 11p15 4 microdeletion associates with hemihypertrophy |
| url | http://dx.doi.org/10.1155/2018/2746347 |
| work_keys_str_mv | AT surasakpuvabanditsin 11p154microdeletionassociateswithhemihypertrophy AT mehrinsadiq 11p154microdeletionassociateswithhemihypertrophy AT mariannejacob 11p154microdeletionassociateswithhemihypertrophy AT maazjalil 11p154microdeletionassociateswithhemihypertrophy AT kenyacabrera 11p154microdeletionassociateswithhemihypertrophy AT omerchoudry 11p154microdeletionassociateswithhemihypertrophy AT rajeevmehta 11p154microdeletionassociateswithhemihypertrophy |