Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion
Objective: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. Materials and Methods: A 22-year-old woman underwent amniocentesis at 17 weeks of ges...
Saved in:
Main Authors: | Chih-Ping Chen (Author), Chen-Yu Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Yen-Ni Chen (Author), Shin-Wen Chen (Author), Chen-Chi Lee (Author), Dai-Dyi Town (Author), Meng-Shan Lee (Author), Chien-Wen Yang (Author), Wayseen Wang (Author) |
---|---|
Format: | Book |
Published: |
Elsevier,
2016-10-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
26,3%
by: Mercedes Ruiz Paz
Published: (2004) -
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter)
by: Chih-Ping Chen, et al.
Published: (2016) -
Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion
by: Chih-Ping Chen, et al.
Published: (2016) -
Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome
by: Chih-Ping Chen, et al.
Published: (2021) -
Incidental detection of partial Xq deletion (Xq21→qter), or 46,X,del(X)(q21) in a 17-year-old girl with irregular menstrual cycle
by: Chih-Ping Chen
Published: (2023)