Results 31 to 40 of about 48,766 (300)

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing

Frontiers in Genetics, 2022
Tetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination.
Jialing Yu, Na Chen, Min Chen, Min Shen, Yeqing Qian, Minyue Dong, Minyue Dong, Minyue Dong   +7 more
doaj   +1 more source

Pneumocystis carinii karyotypes [PDF]

Journal of Clinical Microbiology, 1990
Pulsed-field gel electrophoresis techniques were used to examine the chromosomes of Pneumocystis carinii isolated from laboratory rats and two human subjects. P. carinii organisms isolated from each of four rat colonies and from two patients each produced a distinct band pattern, but in all cases the bands ranged in size from 300 to 700 kilobase pairs.
S T, Hong, P E, Steele, M T, Cushion, P D, Walzer, S L, Stringer, J R, Stringer   +5 more
openaire   +2 more sources

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

Frontiers in Genetics
ObjectiveTo assess the detection rate of exome sequencing (ES) in fetuses diagnosed as skeletal abnormalities (SKA) with normal karyotype or chromosomal microarray analysis (CMA) results.MethodsWe conducted electronic searches in four databases, focusing
Mengting Jiang, Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu   +6 more
doaj   +1 more source

Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation

Efficacy and Mechanism Evaluation, 2017
Background: Current pathways for testing fetuses at increased risk of a chromosomal anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy exclusion.
Stephen C Robson, Lyn S Chitty, Stephen Morris, Talitha Verhoef, Gareth Ambler, Diana G Wellesley, Ruth Graham, Claire Leader, Jane Fisher, John A Crolla   +9 more
doaj   +1 more source

A new species in the major malaria vector complex sheds light on reticulated species evolution [PDF]

, 2019
Complexes of closely related species provide key insights into the rapid and independent evolution of adaptive traits. Here, we described and studied Anopheles fontenillei sp.n., a new species in the Anopheles gambiae complex that we recently discovered ...
Akone-Ella O., Ayala D., Barron M. G., Costantini C., Gonzalez J., Kengne P., Ngangue M. F., Paupy C., Pombi M., Rahola N., Simard F., Wilson-Bahun T. A.   +11 more
core   +1 more source

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide, A. Khalil, A. Kulkarni, B. Thilaganathan, E. Dempsey, F. G. Sileo, Hutchison AA, I. Branescu, Jauniaux E, Norton ME, S. Mansour, Santolaya J, T. Homfray   +12 more
core   +2 more sources

MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2017
Embryologically mullerian duct derivatives lead to formation of female genitalia and wolffian duct derivatives to male genitalia. Presence of mullerian duct derivatives in a chromosomally normal male (XY) leads to male pseudohermaphroditism and is ...
RAMBIR SINGH, SUNIL D KUMAR, NIDHI AGGARWAL   +2 more
doaj   +1 more source

Chromosomal abnormalities in primary and secondary amenorrhea

Bangabandhu Sheikh Mujib Medical University Journal
Background: Menstruation is an important physiological function of the female reproductive system. The absence of menstruation is called amenorrhea. Many genetic and nongenetic causes are responsible for primary or secondary amenorrhea. This study aimed
Tasnim Binte Ahmed, Jasmine Akhter Jahan, Bishnu Pada Dey, Saequa Habib   +3 more
doaj   +1 more source

Karyotyping Mouse Cells [PDF]

Cold Spring Harbor Protocols, 2008
INTRODUCTIONThe majority of mouse chromosome preparations for banding are now made by air-drying and, in essence, require the production of a cell suspension as a starting point. Some samples such as blood cultures, ascitic fluids, or cells growing in suspension will already be in suspension; others, such as bone marrow, solid tumors, or cells growing ...
Andras, Nagy, Marina, Gertsenstein, Kristina, Vintersten, Richard, Behringer   +3 more
openaire   +2 more sources

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources