[Genetic diagnosis of a case of Smith-Magenis syndrome due to a rare small-scale deletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(9): 1005-1010, 2022 Sep 10.
Article
en Zh
| MEDLINE
| ID: mdl-36082575
OBJECTIVE: To report on a case of Smith-Magenis syndrome (SMS) due to a rare small-scale deletion. METHODS: Muscle samples from the the third fetus was collected after the in Medical history and clinical data of the patient were collected. The child and his parents were subjected to chromosome karyotyping analysis, multiplex ligation-dependent probe amplification (MLPA) and copy number variation sequencing (CNV-seq). RESULTS: The child was found to have a normal karyotype. MLPA and CNV-seq detection showed that he has harbored a 1.22 Mb deletion and a 0.3 Mb duplication in the 17p11.2 region. Neither of his parents was found to have similar deletion or duplication. CONCLUSION: The child was diagnosed with SMS due to a rare 1.22 Mb deletion in the 17p11.2 region, which is among the smallest deletions associated with this syndrome.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Síndrome de Smith-Magenis
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Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
China