Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q

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• 作者：Ana I. Vá ; squez-Velá ; squez^a ; Horacio Rivera^a ; ^b ; Ana G. Castro^c ; ^d ; Ana R. Jaloma-Cruz^a ; Clara I. Juá ; rez^c ; ^d ; Irving J. Lara-Navarro^e ; Carlos Có ; rdova-Fletes^f ; Paul Mendoza- Pé ; rez^f ; José ; E. Garcí ; a-Ortiz^a ; ^{jose.elias.garcia@gmail.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：de novo ; paternal descent ; X-autosome translocation ; recombinant chromosome ; Xq duplication
• 刊名：Taiwanese Journal of Obstetrics and Gynecology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：55
• 期：2
• 页码：275-280
• 全文大小：1391 K

文摘

Objective: We report on two rare Xq rearrangements, namely a t(X;9)(q24;q12) found in a mildly-affected girl (Patient 1) and a rea(X)dup q concomitant with a rob(14;21)mat in a Down syndrome girl (Patient 2). Case report: Both rearrangements were characterized by banding techniques [Giemsa (G), constitutive heterochromatin (C), and bromodeoxyuridine (BrdU) pulse], fluorescence in situ hybridization (FISH) assays, human androgen receptor (HUMAR) assays, and microarray analyses. Patient 1 had a t(X;9)(q24;q12)dn. Patient 2 had a de novo rea(X)(qter→q23 or q24::p11.2→qter) concomitant with an unbalanced rob(14;21)mat. X-Inactivation studies in metaphases and DNA revealed a fully skewed inactivation: the normal homolog was silenced in Patient 1 and the rea(X) in Patient 2. Both rearranged X chromosomes were of paternal descent. Microarray analyses revealed no imbalances in Patient 1 whereas loss of Xp (∼52 Mb) and duplication of Xq (∼44 Mb) and 21q were confirmed in Patient 2. Conclusion: Our observations further document the cytogenetic heterogeneity and predominant paternal origin of certain de novo X-chromosome rearrangements.