A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference42 articles.
1. Features of trisomy 18 and 18p-syndromes in an infant with 46, XY, i(18q)
2. Pure trisomy 10p involving an isochromosome 10p
3. Prenatal ultrasonographic diagnosis of radial-ray reduction malformations
4. Four cases of trisomy 18 syndrome with limb reduction malformations.
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1. Disorders of platelets and coagulation, thrombosis and blood transfusion;Neonatal Haematology;2022-06-10
2. Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review;Taiwanese Journal of Obstetrics and Gynecology;2022-01
3. Instability of Isochromosome 4p in a Child with Pure Trisomy 4p Syndrome Features and Entire 4q-Arm Translocation;Cytogenetic and Genome Research;2015-01-28
4. Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester;American Journal of Perinatology Reports;2011-06-08
5. The incidence of thrombocytopenia in children with Cornelia de Lange syndrome;American Journal of Medical Genetics Part A;2010-12-10
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