Results 141 to 150 of about 1,611,821 (178)

Nuchal Thickening in Jacobsen Syndrome

Ultrasound in Obstetrics and Gynecology, 1998
AbstractA routine detailed ultrasound examination performed at 20 weeks' gestation demonstrated the presence of nuchal thickening as an apparently isolated finding. The concentration of maternal α‐fetoprotein was normal and the risk of Down's syndrome was 1 in 6800. Amniocentesis was performed and chromosome analysis showed the karyotype 46,XY, del(11)(
N C Smith, E S Gray
exaly   +3 more sources

11q Terminal Deletion and Combined Immunodeficiency (Jacobsen Syndrome): Case Report and Literature Review on Immunodeficiency in Jacobsen Syndrome

American Journal of Medical Genetics, Part A, 2016
Antibody deficiency is common finding in patients with Jacobsen syndrome (JS). In addition, there have been few reports of T‐cell defects in this condition, possibly because most of the reported patients have not been specifically evaluated for T‐cell function.
Štefan Blazina, Tinka Hovnik, Alojz Ihan   +2 more
exaly   +3 more sources

Anesthetic implications of Jacobsen syndrome

Pediatric Anesthesia, 2005
SummaryJacobsen syndrome (JS), also known as 11q‐syndrome, is a congenital disorder associated with a deletion of the long arm of chromosome 11. Patients with JS characteristically exhibit multiple dysmorphic features, developmental delay, cardiac anomalies, and platelet abnormalities.
R, Blaine Easley, Devin, Sanders, Jamie, McElrath-Schwartz, Jackie, Martin, J, Mark Redmond   +4 more
openaire   +2 more sources

Ocular findings in Jacobsen syndrome

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2004
To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature.Ten new cases of Jacobsen syndrome were collected and studied ...
William B, Lee, Henry S, O'Halloran, Paul D, Grossfeld, Colin, Scher, Yvette M, Jockin, Christopher, Jones   +5 more
openaire   +2 more sources

Endocrine Abnormalities in Patients With Jacobsen (11q−) Syndrome

American Journal of Medical Genetics, Part A, 2004
AbstractJacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Short stature has been reported in this syndrome, however very few of these patients have undergone endocrine evaluation.
Kenneth Lee Jones, Asheesh Dewan
exaly   +3 more sources

Paris‐Trousseau syndrome platelets in a child with Jacobsen's syndrome

American Journal of Hematology, 2001
AbstractThe thrombocytopenia in an infant with clinical features of Jacobsen's syndrome characterized by multiple congenital anomalies, cardiac defects, psychomotor retardation, and deletion of chromosome 11 at 11q23.3 has been evaluated. Study of his platelets in the electron microscope revealed giant alpha granules in his cells identical in ...
L, Krishnamurti, J P, Neglia, R, Nagarajan, S A, Berry, J, Lohr, B, Hirsch, J G, White   +6 more
openaire   +2 more sources

Jacobsen Syndrome: Advances in Our Knowledge of Phenotype and Genotype

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2015
In 1973, the Danish geneticist Petrea Jacobsen described a three‐generation family in which the proband carried a presumed terminal deletion at the end of the long arm of chromosome 11 (11q). This patient had dysmorphic features, congenital heart disease, and intellectual disability. Since Dr.
Paul Grossfeld, Sarah N Mattson, Natacha Akshoomoff   +2 more
exaly   +3 more sources

SPECTRUM OF IMMUNODEFICIENCIES IN JACOBSEN SYNDROME

Annals of Allergy, Asthma & Immunology, 2018
Introduction Jacobsen syndrome (JS) is a rare contiguous gene deletion syndrome associated with a distal deletion of chromosome 11q. Immune deficiency in JS has not been well-established but usually involves antibody defects. Here we report 2 cases of Jacobsen syndrome with combined T and B cell defects presenting at different ages.
T. Banzon, Y. Demirdag
openaire   +1 more source

Jacobsen Syndrome Detected by Noninvasive Prenatal Testing

Obstetrics & Gynecology, 2015
Noninvasive prenatal testing has a high detection rate of common fetal chromosomal aneuploidies. However, detection of additional chromosome abnormalities has not been well described or validated.We report a case of Jacobsen syndrome, a congenital disorder involving deletion of chromosome 11q, detected by noninvasive prenatal testing at 14 weeks of ...
Jamie O, Lo, Cori D, Feist, Jason, Hashima, Brian L, Shaffer   +3 more
openaire   +2 more sources

Scurvy Findings in a Child with Jacobsen Syndrome

JBJS Case Connector, 2019
Case: We describe the first reported case of scurvy developing secondary to behavioral traits of Jacobsen syndrome. The diagnosis of scurvy was significantly delayed because bleeding symptoms were initially attributed to baseline thrombocytopenia and platelet dysfunction associated with Jacobsen syndrome and ...
Alan C. Puddy, Jessica L. Hughes, Avrum L. Joffe, Paritosh C. Khanna, Courtney D. Thornburg, Scott J. Mubarak   +5 more
openaire   +2 more sources