Results 81 to 90 of about 162,657 (334)

Deciduous teeth eruption in full and mosaic type of Down’s Syndrome patient

Dental Journal, 2005
The purpose of this study was to examined the correlation of deciduous teeth eruption with the karyotipe of) Down’s Syndrome patient. Full and Mosaic karyotype in Down’s Syndrome (DS) patients have different prognostics.
Willyanti Sjarif
doaj   +1 more source

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Partial Molar Pregnancy with Coexistent Normal Appearing Singleton Foetus with Normal Karyotype - A Challenging Rare Clinical Entity

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Partial molar pregnancy is a rare clinical entity usually associated with an abnormal foetus with triploid karyotype and with a large cystic placenta. The incidence of partial mole with the normal diploid foetus is extremely rare.
Jayanta K. Biswas, Darshan S. Grewal, Nalin S. Singh, Sudhir Mansingh, Rishiraj N. Verma   +4 more
doaj   +1 more source

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Andrew Barker, Andrew Benner, Garry Cutting, Kevin Richter, Khanh-Ha Nguyen, Paul Brezina, Raymond Anchan, Ric Ross, William Kearns   +8 more
core   +1 more source

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Chromosomal studies of five species of the marine fishes from the Paranaguá Bay and the karyotypic diversity in the marine teleostei of the Brazilian coast

Brazilian Archives of Biology and Technology, 2008
In this study, five species of marine fishes from the Paranaguá Bay in the Brazilian coast were evaluated. Eucinostomus argenteus and Diapterus rhombeus (Gerreidae) presented 48 chromosomes, all of which more acrocentric (FN = 48); Strongylura timucu and
Roger Raupp Cipriano, Alberto Sérgio Fenocchio, Roberto Ferreira Artoni, Wagner Molina, Rafael Bueno Noleto, Daniel Luis Zanella Kantek, Marta Margarete Cestari   +6 more
doaj   +1 more source

Nuclear DNA contents, rDNAs, and karyotype evolution in subgenus Vicia: III. The heterogeneous section Hypechusa. [PDF]

, 2006
: Nuclear DNA contents, automated karyotype analyses, and sequences of internal transcribed spacers from ribosomal genes have been determined in the species belonging to section Hypechusa of the sub-genus Vicia.
AMBROSIO M, CAPUTO, PAOLO, CREMONINI R., FREDIANI M, RAVALLI C, VENORA G   +5 more
core  

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Cariotipo del pejelagarto tropical Atractosteus tropicus (Lepisosteiformes: Lepisosteidae) y variación cromosómica en sus larvas y adultos

Revista de Biología Tropical, 2009
El cariotipo del pejelagarto Atractosteus tropicus se describe por medio de tinción Giemsa de 295 preparaciones cromosómicas en mitosis a partir de 120 larvas y 15 adultos (5 hembras y diez machos) de la población que habita en Tabasco, sureste de México.
Lenin Arias-Rodríguez, Salomón Páramo-Delgadillo, Wilfrido M Contreras-Sánchez, Carlos A Álvarez-González   +3 more
doaj