[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion].

Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
Original Publication: Chengdu : Hua xi yi ke da xue,

Craniofacial Abnormalities/*embryology ; Craniofacial Abnormalities/*genetics ; Intellectual Disability/*embryology ; Intellectual Disability/*genetics ; Learning Disabilities/*genetics ; Neurofibromatoses/*embryology ; Neurofibromatoses/*genetics ; Neurofibromatosis 1/*embryology ; Neurofibromatosis 1/*genetics; Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Craniofacial Abnormalities/diagnosis ; Female ; Gene Deletion ; Humans ; Intellectual Disability/diagnosis ; Karyotyping ; Learning Disabilities/diagnosis ; Male ; Neurofibromatoses/diagnosis ; Neurofibromatosis 1/diagnosis ; Pregnancy ; Prenatal Diagnosis

Objective: To analyze the correlation between atypical neurofibromatosis type 1(NF1) microdeletion and fetal phenotype.
Methods: Fetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array (SNP-array) were performed on the fetal blood sample. Fluorescence in situ hybridization (FISH) was used to confirm the result of SNP array analysis. FISH assay was also carried out on peripheral blood specimens from the parents to ascertain the origin of mutation.
Results: The karyotype of fetus was found to be 46, XY by G-banding analysis. However, a 3.132 Mb microdeletion was detected in chromosome region 17q11.2 by SNP array, which overlaped with the region of NF1 microdeletion syndrome. Analyzing of the specimens from the fetus and its parents with FISH has confirmed it to be a de novo deletion.
Conclusion: Talipes equinovarus may be an abnormal sonographic feature of fetus with atypical NF1 microdeletion which can be accurately diagnosed with SNP array.

NF1 Microdeletion Syndrome

Date Created: 20160410 Date Completed: 20160630 Latest Revision: 20191210

20221213

10.3760/cma.j.issn.1003-9406.2016.02.019

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