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Molecular cytogenetic characterization of 2q deletion and Xq duplication associated with nasal bone dysplasia in prenatal diagnosis: A case report and literature review.
Sun, Mei-Ling; Yue, Fa-Gui; Zhang, Xin-Yue; Jiang, Yu-Ting; Li, Lei-Lei; Zhang, Hong-Guo; Liu, Rui-Zhi.
Afiliación
  • Sun ML; Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, PR China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, Jilin, PR China.
  • Yue FG; Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, PR China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, Jilin, PR China.
  • Zhang XY; Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, PR China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, Jilin, PR China.
  • Jiang YT; Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, PR China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, Jilin, PR China.
  • Li LL; Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, PR China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, Jilin, PR China.
  • Zhang HG; Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, PR China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, Jilin, PR China.
  • Liu RZ; Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, PR China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, Jilin, PR China. Electronic address: liurz@jlu.edu.cn.
Taiwan J Obstet Gynecol ; 61(1): 163-169, 2022 Jan.
Article en En | MEDLINE | ID: mdl-35181032
OBJECTIVE: We report a prenatal case of male fetus with a 2q13 deletion and an Xq27.3q28 duplication, presenting nasal bone dysplasia by ultrasound examination. And we compare the similarities of clinical features of cases consisting of similar 2q deletion and Xq duplication. CASE REPORT: A 30-year-old woman was referred for prenatal diagnosis and genetic counseling at 24 weeks of gestation. Prenatal ultrasound showed nasal bone dysplasia of the fetus. Amniocentesis revealed the karyotype of the fetus as 46, XY and the results of chromosomal microarray analysis was arr[GRCh37] 2q13(110467258-111370025)x1, arr[GRCh37]Xq27.3q28(144050780-149748782)x2. The parents both have normal karyotypes. The couple chose to continue the pregnancy and finally delivered a male infant at 39 weeks of gestation. His weight was 2850 g and length was 50 cm. Physical examination of the newborn revealed no apparent anomalies. Until the boy was one year old, there was no abnormalities in his growth and development. The long-term follow-up till adulthood for the healthy infant is necessary. CONCLUSION: The development of CMA plays a critical role in prenatal diagnosis and genetic counseling for unidentified chromosomal anomalies. More clinical information and further studies of patients with these anomalies will identify the pathogenicity of the involving genes and improve the understanding of the phenotype-genotype correlation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Enfermedades del Desarrollo Óseo / Deleción Cromosómica / Duplicación Cromosómica / Amniocentesis Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Taiwan J Obstet Gynecol Asunto de la revista: GINECOLOGIA / OBSTETRICIA Año: 2022 Tipo del documento: Article Pais de publicación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Enfermedades del Desarrollo Óseo / Deleción Cromosómica / Duplicación Cromosómica / Amniocentesis Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Taiwan J Obstet Gynecol Asunto de la revista: GINECOLOGIA / OBSTETRICIA Año: 2022 Tipo del documento: Article Pais de publicación: China