Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). [PDF]
, 2011 We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia.
C Preudhomme +32 more
core +1 more source
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. [PDF]
, 2016 Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of
Alexander Hoischen +28 more
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Genetic and clinical features of hemoglobin H disease in Chinese patients [PDF]
, 2000 Background. Normally, one pair of each of the two α-globin genes, α1 and α2, resides on each copy of chromosome 16. In hemoglobin H disease, three of these four α-globin genes are affected by a deletion, a mutation, or both.
Chan, TK +7 more
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An approach to familial lymphoedema. [PDF]
, 2017 Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments,
Atton +4 more
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Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screening [PDF]
, 1997 Background: The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program.
Chan, LC +6 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei +10 more
wiley +1 more source
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]
, 2018 Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S +7 more
core
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf +2 more
wiley +1 more source
Rh Negative Status and Isoimmunization Update: A Case-Based Approach to Care [PDF]
, 2003 Prior to the 1970s and the advent of Rho (D) immune globulin (RIG) for Rh negative women, hemolytic disease of the newborn led to morbidity, long-term disabilities, and mortality.
Hanson, Lisa +3 more
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Termination of pregnancy for medical indications: A 14‐year analysis from a tertiary referral center
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective This study aimed to evaluate the medical indications for termination of pregnancy, gestational age at termination, and methods used in our clinic. Methods This observational retrospective study included pregnancy terminations after 10 weeks of gestation for medical indications between 2010 and 2024.
Yasemin Dogan +5 more
wiley +1 more source