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

• Main Authors: Ana I. Vásquez-Velásquez (Author), Horacio Rivera (Author), Ana G. Castro (Author), Ana R. Jaloma-Cruz (Author), Clara I. Juárez (Author), Irving J. Lara-Navarro (Author), Carlos Córdova-Fletes (Author), Paul Mendoza- Pérez (Author), José E. García-Ortiz (Author)
• Format: Book
• Published: Elsevier, 2016-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

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.

Item Description

1028-4559
10.1016/j.tjog.2015.09.004