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

Abstract 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...

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Published in:Taiwanese journal of obstetrics & gynecology 2016-04, Vol.55 (2), p.275-280
Main Authors: Vásquez-Velásquez, Ana I, Rivera, Horacio, Castro, Ana G, Jaloma-Cruz, Ana R, Juárez, Clara I, Lara-Navarro, Irving J, Córdova-Fletes, Carlos, Mendoza- Pérez, Paul, García-Ortiz, José E
Format: Article
Language:English
Subjects:
de novo
Internal Medicine
Obstetrics and Gynecology
paternal descent
recombinant chromosome
X-autosome translocation
Xq duplication
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Summary:Abstract 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.
ISSN:1028-4559
DOI:10.1016/j.tjog.2015.09.004