The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation
Purpose: Mental retardation is a common handicap (2-3% of the general population) with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of...
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| Format: | Article |
| Language: | English |
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Cukurova University
2013-06-01
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| Series: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
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| Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=32496 |
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| author | Nilgun Tanriverdi Ayfer Pazarbasi Dilara Suleymanova Karahan Ilker Guney Deniz Tastemir Erdal Tunc Osman Demirhan Ozlem Herguner |
| author_facet | Nilgun Tanriverdi Ayfer Pazarbasi Dilara Suleymanova Karahan Ilker Guney Deniz Tastemir Erdal Tunc Osman Demirhan Ozlem Herguner |
| author_sort | Nilgun Tanriverdi |
| collection | DOAJ |
| description | Purpose: Mental retardation is a common handicap (2-3% of the general population) with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19)(q24;q12)x2] between two copy of non homolog chromosomes. Materials and Methods: Chromosomal analysis of peripheral blood lymphocytes from the proband and her family were performed with standart protocols at the Cukurova University hospital in Turkey. Results: We assessed the second and third generation of the family in which the translocation between chromosomes 16 and 19 segregates: one of the three progenies with the karyotype 46,XY, t(16;19)(q24;q12) was heterozygote for the translocation and presented normal phenotype. One of the three progenies with the karyotype 46,XY presented normal phenotype also and the third with the karyotype 46,XY [t(16;19)(q24;q12)x2] was the proband. The parents were consanguinous, heterozygote for the translocation, and presented normal phenotype. Conclusions: Atypialc facial appearance and mental retardation could be associated with the homozygote translocation. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. [Cukurova Med J 2013; 38(3.000): 540-542] |
| first_indexed | 2024-04-10T14:44:53Z |
| format | Article |
| id | doaj.art-9f7ca2f54fa54a7a90e73809fd60357d |
| institution | Directory Open Access Journal |
| issn | 0250-5150 |
| language | English |
| last_indexed | 2024-04-10T14:44:53Z |
| publishDate | 2013-06-01 |
| publisher | Cukurova University |
| record_format | Article |
| series | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| spelling | doaj.art-9f7ca2f54fa54a7a90e73809fd60357d2023-02-15T16:07:56ZengCukurova UniversityÇukurova Üniversitesi Tıp Fakültesi Dergisi0250-51502013-06-01383540542The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental RetardationNilgun TanriverdiAyfer PazarbasiDilara Suleymanova KarahanIlker GuneyDeniz TastemirErdal TuncOsman DemirhanOzlem HergunerPurpose: Mental retardation is a common handicap (2-3% of the general population) with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19)(q24;q12)x2] between two copy of non homolog chromosomes. Materials and Methods: Chromosomal analysis of peripheral blood lymphocytes from the proband and her family were performed with standart protocols at the Cukurova University hospital in Turkey. Results: We assessed the second and third generation of the family in which the translocation between chromosomes 16 and 19 segregates: one of the three progenies with the karyotype 46,XY, t(16;19)(q24;q12) was heterozygote for the translocation and presented normal phenotype. One of the three progenies with the karyotype 46,XY presented normal phenotype also and the third with the karyotype 46,XY [t(16;19)(q24;q12)x2] was the proband. The parents were consanguinous, heterozygote for the translocation, and presented normal phenotype. Conclusions: Atypialc facial appearance and mental retardation could be associated with the homozygote translocation. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. [Cukurova Med J 2013; 38(3.000): 540-542]http://www.scopemed.org/fulltextpdf.php?mno=32496Atypical facial appearanceChromosomes 16 and 19TranslocationMental retardation |
| spellingShingle | Nilgun Tanriverdi Ayfer Pazarbasi Dilara Suleymanova Karahan Ilker Guney Deniz Tastemir Erdal Tunc Osman Demirhan Ozlem Herguner The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation Çukurova Üniversitesi Tıp Fakültesi Dergisi Atypical facial appearance Chromosomes 16 and 19 Translocation Mental retardation |
| title | The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation |
| title_full | The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation |
| title_fullStr | The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation |
| title_full_unstemmed | The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation |
| title_short | The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation |
| title_sort | presence of translocation t 16 19 q24 q12 x2 between two copy of non homologous chromosomes at a case with atypical facial appearance and mental retardation |
| topic | Atypical facial appearance Chromosomes 16 and 19 Translocation Mental retardation |
| url | http://www.scopemed.org/fulltextpdf.php?mno=32496 |
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