Cri Du Chat Syndrome
What's New
Last Posted: Mar 05, 2023
- F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome.
Cistaro Angelina, et al. Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2019 0 (8) 1195-1199 - [Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories].
Shi J P, et al. Zhonghua yi xue za zhi 2021 0 (15) 1088-1092 - 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.
Rossi Elena, et al. American journal of medical genetics. Part A 2005 0 (2) 189-92 - Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.
Nevado Julián et al. Frontiers in genetics 2021 12645595 - Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome.
Méndez-Rosado Luis A et al. Archivos argentinos de pediatria 2020 Feb 118(1) 52-55 - Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
Petersen Andrea K et al. American journal of obstetrics and gynecology 2017 Oct - Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
Wapner Ronald J, et al. American journal of obstetrics and gynecology 2015 3 (3) 332.e1-9 - Cri du chat syndrome
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
- Content source: