Fragile X syndrome: clinical and cytogenetic studies
Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fr...
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| Format: | Article |
| Language: | English |
| Published: |
Academia Brasileira de Neurologia (ABNEURO)
1998-03-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000100002&tlng=en |
| _version_ | 1818745329147707392 |
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| author | TÊMIS MARIA FÉLIX JOÃO MONTEIRO DE PINA-NETO |
| author_facet | TÊMIS MARIA FÉLIX JOÃO MONTEIRO DE PINA-NETO |
| author_sort | TÊMIS MARIA FÉLIX |
| collection | DOAJ |
| description | Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postpubertal subjects the most frequent clinical signs were inner canthal distance < 3.5 cm, macro-orchidism, long and narrow face and high arched palate while in the prepubertal subjects the behavioral characteristics as hyperactivity and poor eye contact were the most frequent and were observed in all patients. Twenty six percent of the heterozygous women presented with mental retardation and showed clinical signs rather than behavioral ones. All male individuals with mental retardation were observed as having fragile X [fra(X)] in lymphocytes culture. Sixty three percent of women showed fra(X). There was a positive correlation between the frequency of fra(X) and the clinical characteristics. We emphasize the importance of the clinical evaluation in the study of familial mental retardation and in the screening of isolated cases with suspect of having the fragile X syndrome. |
| first_indexed | 2024-12-18T02:58:28Z |
| format | Article |
| id | doaj.art-001a9b0a3e6745339e9cfe479434baa5 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-18T02:58:28Z |
| publishDate | 1998-03-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-001a9b0a3e6745339e9cfe479434baa52022-12-21T21:23:19ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42271998-03-01561091710.1590/S0004-282X1998000100002Fragile X syndrome: clinical and cytogenetic studiesTÊMIS MARIA FÉLIX0JOÃO MONTEIRO DE PINA-NETOUniversidade Federal do Rio Grande do SulThree families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postpubertal subjects the most frequent clinical signs were inner canthal distance < 3.5 cm, macro-orchidism, long and narrow face and high arched palate while in the prepubertal subjects the behavioral characteristics as hyperactivity and poor eye contact were the most frequent and were observed in all patients. Twenty six percent of the heterozygous women presented with mental retardation and showed clinical signs rather than behavioral ones. All male individuals with mental retardation were observed as having fragile X [fra(X)] in lymphocytes culture. Sixty three percent of women showed fra(X). There was a positive correlation between the frequency of fra(X) and the clinical characteristics. We emphasize the importance of the clinical evaluation in the study of familial mental retardation and in the screening of isolated cases with suspect of having the fragile X syndrome.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000100002&tlng=enfragile X syndromemental retardationX-linked mental retardation |
| spellingShingle | TÊMIS MARIA FÉLIX JOÃO MONTEIRO DE PINA-NETO Fragile X syndrome: clinical and cytogenetic studies Arquivos de Neuro-Psiquiatria fragile X syndrome mental retardation X-linked mental retardation |
| title | Fragile X syndrome: clinical and cytogenetic studies |
| title_full | Fragile X syndrome: clinical and cytogenetic studies |
| title_fullStr | Fragile X syndrome: clinical and cytogenetic studies |
| title_full_unstemmed | Fragile X syndrome: clinical and cytogenetic studies |
| title_short | Fragile X syndrome: clinical and cytogenetic studies |
| title_sort | fragile x syndrome clinical and cytogenetic studies |
| topic | fragile X syndrome mental retardation X-linked mental retardation |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000100002&tlng=en |
| work_keys_str_mv | AT temismariafelix fragilexsyndromeclinicalandcytogeneticstudies AT joaomonteirodepinaneto fragilexsyndromeclinicalandcytogeneticstudies |