Results 11 to 20 of about 241,233 (172)

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance [PDF]

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent ...
Bahar Gokturk, Mahmut Gokdemir, ismail Reisli, Mahmut Selman Yildirim   +3 more
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FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME [PDF]

Медицинская иммунология, 2017
The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype.
I. A. Tuzankina, S. S. Deryabina, E. V. Vlasova, M. A. Bolkov   +3 more
doaj   +4 more sources

Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: To report prenatal diagnosis of 22q11.2 deletion syndrome in a pregnancy with congenital heart defects in the fetus. Case report: A 26-year-old, primigravid woman was referred for counseling at 24 weeks of gestation because of abnormal ...
Yu-Ling Kuo, Chih-Ping Chen, Liang-Kai Wang, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Yu-Ting Chen, Shu-Yuan Chang   +8 more
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Case report: Novel phenotype in central 22q11.2 deletion syndrome

Clinical Case Reports, 2020
Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition.
Patrick Dideum, Luis Rohena, Janet Berg, Candace Percival   +3 more
doaj   +2 more sources

22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment

Вопросы современной педиатрии, 2016
The article analyzes the consequences of chromosomal abnormalities caused by the deletion of a small piece of chromosome 22. This syndrome results in diverse clinical manifestations: congenital heart defects, abnormalities in the large vessels ...
Leyla S. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, Kirill V. Savostyanov, Alexandr A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan   +7 more
doaj   +2 more sources

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMAworking groups on CNVs [PDF]

, 2022
The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number variant (ENIGMA‐CNV) and 22q11.2 Deletion Syndrome Working Groups (22q‐ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and ...
Ge, T., Boomsma, D., Grabe, H., Jalbrzikowski, M., McDonald-McGinn, D., Hashimoto, R., Holmes, A., Vassos, E., Stefánsson, K., Martínez, K., Mathias, S., Paus, T., Rodriguez‐Herreros, B., Draganski, B. ; https://orcid.org/, Van der Meer, D., Liu, J., Craig, M., Hottenga, J., Amunts, K., Ayesa‐Arriola, R., Hansen, L., Armstrong, N., Chow, E., Vila‐Rodriguez, F., Westlye, L., van Ent, D., Bassett, A., Espeseth, T., Glahn, D., Vila-Rodriguez, F., Reis Marques, T., Jacquemont, S., Monereo Sánchez, J., Arango, C., Prieto, C., Ching, C., Roalf, D., Draganski, B., Calhoun, V., Rucker, J., Moreau, C., Wittfeld, K., Mather, K., Gutman, B., Cichon, S., Ulfarsson, M., Tamnes, C., Thompson, P., Reymond, A., Crespo‐Facorro, B., Djurovic, S., Repetto, G., Walters, G., Vajdi, A., Sun, D., Haavik, J., Pol, H., Gur, R., Rodriguez-Herreros, B., Vázquez-Bourgon, J., Sánchez, J., Crespo-Facorro, B., Stefansson, H., Agartz, I., McDonald‐McGinn, D., Bearden, C., Donohoe, G., Sønderby, I., Hulshoff Pol, H., Ehrlich, S., Kushan, L., Thomopoulos, S., Cunningham, A., Silva, A., McRae, A., Modenato, C., Moberget, T., Butcher, N., Martin‐Brevet, S., Zackai, E., Lundervold, A., Marques, T., Van den Bree, M., Dale, A., Hibar, D., Martin-Brevet, S., Mühleisen, T., Schmitt, J., Villalon‐Reina, J., Vázquez‐Bourgon, J., Medland, S., Ciufolini, S., Knowles, E., Pausova, Z., Bakker, G., Villalon-Reina, J., Linden, D., Wen, W., Bülow, R., Doherty, J., Emanuel, B., Van 't Ent, D., Stein, D., Tordesillas-Gutiérrez, D., Fisher, S., Andreassen, O., Håberg, A., Ragothaman, A., Reinbold, C., Tordesillas‐Gutiérrez, D., Caspers, S., De Zubicaray, G., Ayesa-Arriola, R., Schofield, P., Sachdev, P., Durdle, C., Dazzan, P.   +116 more
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Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico

Boletín Médico del Hospital Infantil de México, 2022
Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has been
Gerardo E. Fabián-Morales, Lucina Bobadilla-Morales, Christian Peña-Padilla, Rafael Nieto-García, Pascuala B. Rivera-Ramírez, Alfredo Corona-Rivera, Aurea Márquez-Mora, Graciela Macías-Salcedo, Idalid Cuero-Quezada, Jorge R. Corona-Rivera   +9 more
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A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

Case Reports in Genetics, 2023
Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. We describe a case of germline 22q11.21 microduplication syndrome with concurrent mosaic 22q11.2 deletion in a pregnant patient, identified ...
Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim   +4 more
doaj   +1 more source

Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome [PDF]

, 2022
The 22q11.2 deletion syndrome (22q11.2DS) manifests as a wide range of medical conditions across a number of systems. Pediatric growth deficiency with some catch-up growth is reported, but there are few studies of final adult height.
Brigid Conroy, Joanne Ha, Corral, Maria, Sarah Malecki, Heung, Tracy, Malecki, Sarah, Bassett, Anne S., Anne S. Bassett, Ha, Joanne, Erik Boot, Conroy, Brigid, Boot, Erik, Maria Corral, Tracy Heung   +13 more
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Laryngeal web with 22q11.2 deletion syndrome

International Journal of Pediatrics & Adolescent Medicine, 2022
Laryngeal web is a rare congenital or acquired disease that results in airway stenosis. Depending on the severity of atresia, patients with laryngeal web show a wide variety of symptoms ranging from asymptomatic to life-threatening respiratory ...
Yasuhiro Abe, Tomohiro Hirade, Daisuke Koike, Chihiro Matama, Fumihide Kato   +4 more
doaj   +1 more source