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Congenital heart disease (CHD) is the most frequent noninfectious cause of death at birth. The incidence of CHD ranges from 4 to 50/1,000 births (Disease and injury regional estimates, World Health Organization, 2004). Surgeries that often compromise the quality of life are required to correct heart defects, reminding us of the importance of finding the causes of CHD. Mutant mouse models and live imaging technology have become essential tools to study the etiology of this disease. Although advanced methods allow live imaging of abnormal hearts in embryos, the physiological and hemodynamic states of the latter are often compromised due to surgical and/or lengthy procedures. Noninvasive ultrasound imaging, however, can be used without surgically exposing the embryos, thereby maintaining their physiology. Herein, we use simple M-mode ultrasound to assess heart rates of embryos at E18.5 in utero. The detection of abnormal heart rates is indeed a good indicator of dysfunction of the heart and thus constitutes a first step in the identification of developmental defects that may lead to heart failure. 相似文献
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Tara Patrick Olga Gonzalez Edward J. Dick Jr. Shyamesh Kumar 《Journal of medical primatology》2020,49(2):110-112
Perosomus Elumbis (PE) is a rare congenital disorder characterized by absence of caudal spine (lumbar, sacral, and coccygeal vertebrae). Here, we present the first reported case of PE in a rhesus macaque (Macaca mulatta) and relate our findings to those described in other species. 相似文献
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Inesse Ben-Abdallah-Bouhjar Soumya Mougou-Zerelli Hanene Hannachi Hela Ben-Khelifa Najla Soyah Audrey Labalme Damien Sanlaville Hatem Elghezal Ali Saad 《Gene》2013
Partial duplication of 11q is related to several malformations like growth retardation, intellectual disability, hypoplasia of corpus callosum, short nose, palate defects, cardiac, urinary tract abnormalities and neural tube defects. We have studied the clinical and molecular characteristics of a patient with severe intellectual disabilities, dysmorphic features, congenital inguinal hernia and congenital cerebral malformation which is referred to as cytogenetic exploration. We have used FISH and array CGH analysis for a better understanding of the double chromosomic aberration involving a 7p microdeletion along with a partial duplication of 11q due to adjacent segregation of a paternal reciprocal translocation t(7;11)(p22;q21) revealed after banding analysis. The patient's karyotype formula was: 46,XY,der(7)t(7;11)(p22;q21)pat. FISH study confirmed these rearrangement and array CGH technique showed precisely the loss of at least 140 Kb on chromosome7p22.3pter and 33.4 Mb on chromosome11q22.1q25. Dysmorphic features, severe intellectual disability and brain malformations could result from the 11q22.1q25 trisomy. Our study provides an additional case for better understanding and delineating the partial duplication 11q. 相似文献
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Fatema Alzahrani Hiroyuki Kuwahara Yongkang Long Mohammed Al-Owain Mohamed Tohary Moeenaldeen AlSayed Mohammed Mahnashi Lana Fathi Maha Alnemer Mohamed H. Al-Hamed Gabrielle Lemire Kym M. Boycott Mais Hashem Wenkai Han Almundher Al-Maawali Feisal Al Mahrizi Khalid Al-Thihli Xin Gao Fowzan S. Alkuraya 《American journal of human genetics》2020,107(6):1178
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Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?
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Ernani B. da Rosa Daniélle B. Silveira Laís G. Tsugami Nathan L. Bellé Izabelle O. Matos Luciano V. Targa Rosilene da S. Betat André C. da Cunha Rolando A.R. Villacis Sílvia R. Rogatto Luiza E. Dorfman Rafael F. M. Rosa Paulo R.G. Zen 《Birth defects research. Part A, Clinical and molecular teratology》2016,106(4):225-231