Results 91 to 100 of about 4,368 (158)

Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects

, 2020
[[abstract]]Objective We present a familial 21q22.3 microduplication in a fetus associated with prenatally detected congenital heart defects (CHD). Case report A 38-year-old woman underwent amniocentesis at 22 weeks of gestation because of sonographic ...
陳持平;Chen, Chih-Ping;Chen, Chen-Yu;Chen, Chen-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Chua, Tzu-Yun;Chuang, Tzu-Yun;Wang, Wayseen;Wang, Wayseen
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Severe T-cell lymphopenia in a patient with microduplication 22q11.2 identified by newborn screening [PDF]

Clinical implications: Functional assays differentiating between intrinsic and extrinsic defects are crucial for the management of severe T-cell lymphopenia detected by newborn screening but without a known genetic cause.
Haddad, Elie; https://orcid.org/, Soulard, Clara, Pachlopnik Schmid, Jana; https://orcid.org/, Prader, Seraina; https://orcid.org/, Sayasith, Khampoun, Soomann, Maarja; https://orcid.org/, Lorenzini, Tiziana; https://orcid.org/   +6 more
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The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases

Frontiers in Genetics
BackgroundChromosomal abnormalities are the main cause of birth defects in newborns. Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been applied to the detection of common trisomy (T21, T18, T13).
Shichun Shen, Haimei Qi, Xianping Yuan, Jinhui Gan, Junkun Chen, Jungao Huang   +5 more
doaj   +1 more source

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

, 2014
Constitutional microdeletions affecting 3q13.2q13.31 are rare and attempts for genotype-phenotype correlations have only recently been made in a cohort of 28 patients. The major phenotypic features of this rare syndrome are hypotonia, developmental delay,
Tzetis, M., Karavitakis, E., Xaidara, A., Apazidou, E., Makrythanasis, P., Kanavakis, E., Kitsiou-Tzeli, S., Kosma, K.   +7 more
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An Unusual Case of Inner and Outer Retinal Changes in Patient With 1q21.1 Microduplication Syndrome

, 2022
Distal 1q21.1 microduplication syndrome has variable expressivity including autism spectrum disorder, intellectual disability, ADHD, tetralogy of Fallot, other congenital anomalies.1, 2 The BCL9 gene is located within the 1q21 region and encodes a ...
Nelli Galoyan; Sidney Gospe III; Vandana Shashi; Heidi Cope; Jennifer Sullivanl Tais Estrela; Mays El-Dairi
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Case Report Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech

, 2011
We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a ...
N.A. Davani, Soysal, YASEMİN, Imirzalioglu, N., Soysal, Y., J. Vermeesch, N. Şensoy, Sensoy, N., Y. Soysal, Hekimler, K., Davani, N. A., N. Imirzalıoğlu, Vermeesch, J., K. Hekimler   +12 more
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17p13.3 class I microduplication in a newborn with microcephaly, aortic stenosis and dysmorphic facial features

, 2011
BACKGROUND: Deletion of chromosome 17p13.3 is known to result in Miller-Dieker Syndrome. Microduplication of the same genomic region results in a distinctive clinical syndrome (Roos et al. 2009).
Tam, T, Lun, KS, Chan, K, Liu, A, Lau, E, Tang, M, Chung, B, Ho, A, Tan, T   +8 more
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A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism

, 2012
We report an 11-year-old female with 7q11.23 microduplication detected by an array-CGH test performed because of her atypical facial appearance while being followed-up with diagnoses of epilepsy and cerebral palsy at the pediatric neurology department ...
Deǧerliyurt, A., ÖZDAĞ SEVGİLİ, HİLAL, CEYLANER, SERDAR   +2 more
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Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood

, 2012
Microduplication 22q11.2 is a recently discovered genomic disorder. So far, targeted research on the cognitive and behavioral characteristics of individuals with this microduplication is limited.
Devriendt, Koenraad, Van Esch, Hilde, Peeters, Hilde, Van Campenhout, S., Swillen, Ann, Breckpot, Jeroen, Van Buggenhout, Griet, Fryns, Jean-Pierre, Maes, Bea   +8 more
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Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases. [PDF]

Genes (Basel)
Bisba M, Louizou E, Vittas S.
europepmc   +1 more source