Results 11 to 20 of about 5,960 (128)

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Severe baseline developmental delays in complex genetic syndromes like Down‐Turner mosaicism can completely mask the psychomotor regression of Infantile Epileptic Spasms Syndrome (IESS). Clinicians must maintain a high index of suspicion and prioritize early video‐EEG screening for any abnormal paroxysmal movements.
Shahrori M, Nofal K, Alkhawaja HH, Mohsen W, Alzamari AA.   +4 more
europepmc   +2 more sources

High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and intrauterine fetal death in late gestation

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present high-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing (NIPT) for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and
Chih-Ping Chen, Liang-Kai Wang, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang   +7 more
doaj   +1 more source

Non- Disjunction of Chromosome 21 in the Young Mother at Conception [PDF]

Pediatric Sciences Journal (Egypt), 2022
Background: Maternal age influences the type of chromosomal anomaly in Down syndrome. The older age is associated with non-disjunction while the younger age is associated with translocation of chromosome 21. Aim of the Work: To study the cytogenetics of
Hala Ahmed ElGindy, Magd Ahmed Kotb, Mohamed Farouk Mohamed, Walaa Alsharany Abuelhamd, Nahed Naguib Alsabagh, Nancy Anis, Aly Elkazaz   +6 more
doaj   +1 more source

Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction (IUGR) in the fetus.
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Dai-Dyi Town, Li-Feng Chen, Wayseen Wang   +9 more
doaj   +1 more source

Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy. Case report: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks ...
Yao-Lung Chang, Wu-Pei Yi, An-Shine Chao, Kuan-Ju Chen, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang   +6 more
doaj   +1 more source

Mosaic Down syndrome and acute lymphoblastic B cell-leukemia. Case report

Iatreia, 2016
Down syndrome (DS) or trisomy 21 is a constitutional chromosomal abnormality, which may be mosaic in 1 % to 4 % of cases. DS mosaic diagnosis is difficult because most patients have a normal phenotype and show no significant clinical abnormalities ...
Parra-Baltazar, Isabel Mónica, Quispe-Iporra, Sara Grecia Esperanza, Pinto-Dongo, Claudia, Sullcahuamán-Allende, Yasser, Cruzate-Cabrejos, Vicente, Castro-Mujica, María del Carmen   +5 more
doaj   +1 more source

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome. Case report: A 31-year-old primigravid woman underwent non-invasive prenatal testing (NIPT) at 12 weeks of gestation, and the result was normal.
Chih-Ping Chen, Te-Yao Hsu, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang   +8 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.
Chih-Ping Chen, Yeou-Lih Wang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Li-Feng Chen, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang   +9 more
doaj   +1 more source

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present mosaic trisomy 15 at amniocentesis. Materials and methods: A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of an abnormal non-invasive prenatal testing (NIPT) result suspicious of trisomy 15 ...
Chih-Ping Chen, Te-Yao Hsu, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source

Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array

Molecular Cytogenetics, 2023
Background With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent.
Lili Zhou, Huanzheng Li, Chenyang Xu, Xueqin Xu, Zhaoke Zheng, Shaohua Tang   +5 more
doaj   +1 more source