Cover Image

Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis

Objective: We present molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X; 21 translocation detected by amniocentesis. Case report: A 35-year-old, primigravid woman underwent amniocentesis a...

Full description

Saved in:

Bibliographic Details
Main Authors:	Chih-Ping Chen (Author), Shin-Wen Chen (Author), Chao-Yun Wu (Author), Schu-Rern Chern (Author), Fang-Tzu Wu (Author), Yen-Ting Pan (Author), Peih-Shan Wu (Author), Chen-Chi Lee (Author), Li-Feng Chen (Author), Wayseen Wang (Author)
Format:	Book
Published:	Elsevier, 2023-01-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2→q11.21)
by: Chih-Ping Chen, et al.
Published: (2013)

Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3
by: Chih-Ping Chen, et al.
Published: (2012)

Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis
by: Chih-Ping Chen, et al.
Published: (2023)

Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion
by: Chih-Ping Chen, et al.
Published: (2021)

Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication
by: Ha young Jo, et al.
Published: (2023)

A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)
by: Grigory S. Vasilyev, et al.
Published: (2016)

Prenatal diagnosis of an interstitial deletion of 10q (10q11.21 → q21.1): Array comparative genomic hybridization characterization and literature review
by: Chih-Ping Chen, et al.
Published: (2012)

Coarctation of the aorta and mild to moderate developmental delay in a child with a <it>de novo </it>deletion of chromosome 15(q21.1q22.2)
by: Peters Sarika U, et al.
Published: (2006)

Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis
by: Ying-Chung Chen, et al.
Published: (2020)

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)

Neuropsychological and Language Deficits in 22q11.2 Deletion Syndrome
by: J Gordon Millichap, et al.
Published: (2014)

22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment
by: Leyla S. Namazova-Baranova, et al.
Published: (2016)

Deletion Syndrome 22q11.2: A Systematic Review
by: Jonathan Cortés-Martín, et al.
Published: (2022)

Genotype-phenotype correlation in 22q11.2 deletion syndrome
by: Michaelovsky Elena, et al.
Published: (2012)

Systemic mastocytosis with associated acute myeloid leukemia with t (8; 21) (q22; q22)
by: V S Gadage, et al.
Published: (2012)

Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound
by: Chih-Ping Chen, et al.
Published: (2017)

'Childhood systemic mastocytosis associated with t (8; 21) (q22; q22) acute myeloid leukemia'
by: Nikhil Rabade, et al.
Published: (2016)

22q11.2 DELETION SYNDROME: ALGORITHM FOR THE EARLY DIAGNOSIS AND TREATMENT
by: Leyla S. Namazova-Baranova, et al.
Published: (2017)

How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
by: Miroslaw Wielgos, et al.
Published: (2021)

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review
by: Chih-Ping Chen, et al.
Published: (2017)

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother
by: Chih-Ping Chen, et al.
Published: (2021)

Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects
by: Chih-Ping Chen, et al.
Published: (2019)

A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation
by: Chih-Ping Chen, et al.
Published: (2014)

Treatment‐resistant schizophrenia with 22q11.2 deletion and additional genetic defects
by: Sawako Furukawa, et al.
Published: (2024)

Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21
by: Ja Un Moon, et al.
Published: (2023)

Recurrent Distal 16q Duplication and Terminal 22q Deletion: Prenatal Diagnosis and Genetic Counseling
by: Chih-Ping Chen, et al.
Published: (2010)

Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects
by: Yu-Ling Kuo, et al.
Published: (2014)

Prenatal diagnosis of 22q11.2 deletion syndrome associated with right aortic arch, left ductus arteriosus, cardiomegaly, and pericardial effusion
by: Yen-Ni Chen, et al.
Published: (2016)

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
by: Fernández Luis, et al.
Published: (2009)

Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line
by: Chih-Ping Chen, et al.
Published: (2024)

Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13)
by: Chih-Ping Chen, et al.
Published: (2024)

Detection of mosaic balanced homologous acrocentric rearrangement rea(21q21q) in a woman with repeated pregnancy losses
by: Chih-Ping Chen, et al.
Published: (2012)

Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome
by: Sarah L. Pachtman, et al.
Published: (2016)

Chromosome 22q11.2 deletion: world definition criteria, standards for diagnosis and monitoring
by: M.A. Gonchar, et al.
Published: (2018)

A Case of Bernard-Soulier Syndrome Associated with 22q11.2 Deletion Syndrome
by: Oh Cheol Kwon, et al.
Published: (2023)

CLINICAL CASE OF CHROMOSOME 22Q11.2 DELETION SYNDROME (DI-GEORGIE SYNDROME)
by: Ирина Анатольевна Никитина, et al.
Published: (2020)

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects
by: Carolina Putotto, et al.
Published: (2022)

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience
by: Yasemin Denkboy Öngen, et al.
Published: (2023)

Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome
by: Moogeh Baharnoori, et al.
Published: (2017)

Prenatally detected six duplications at Xp22.33-p11.22: a case report
by: Xue Zhang, et al.
Published: (2023)