当前位置： SCI文献检索 > Taiwanese Journal of Obstetrics & Gynecology期刊下所有文献 > De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.

De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.

Abstract：

OBJECTIVE:To present molecular cytogenetic characterization of a de novo duplication of Xq22.1→q24 in a mentally retarded woman with short stature and premature ovarian failure. MATERIALS AND METHODS:A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease. Conventional cytogenetic analysis revealed a karyotype of 46,X,dup(X)(q22.1q24). Fluorescence in situ hybridization determined a direct duplication with a linear tandem orientation. Array comparative genomic hybridization demonstrated partial trisomy Xq [arr cgh Xq22.1q24 (101,490,234-119,070,188 bp)×3] with a 17.6-Mb duplication. RESULTS:The duplicated region contained NXF2B, NXF4, NXF3, PLP1, and PGRMC1 genes. There was a disruption of the NXF gene cluster of Xcen-NXF5-NXF2-NXF2B-NXF4-NXF3-Xqter. CONCLUSION:A duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in female patients can be associated with clinical manifestations of mental retardation in addition to short stature and premature ovarian failure.

journal_name

Taiwan J Obstet Gynecol

journal_title

Taiwanese journal of obstetrics & gynecology

authors

Chen CP,Su YN,Lin HH,Chern SR,Tsai FJ,Wu PC,Lee CC,Chen YT,Wang W

doi

10.1016/j.tjog.2011.01.018

subject

Has Abstract

pub_date

2011-09-01 00:00:00

pages

339-44

issue

3

eissn

1028-4559

issn

1875-6263

pii

S1028-4559(11)00022-2

journal_volume

50

pub_type

杂志文章

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