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Detection of inversion with breakpoints in causing MPS VI by whole-genome sequencing: lessons learned and best practices.
Front Genet
January 2025
Genetics and Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Introduction: Mucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in gene. Usually, whole exome sequencing (WES) can identify these variants, and if WES failed to detect causative variants, whole-genome sequencing (WGS) may be considered to investigate deep intronic variations and structural alterations in patients.
Methods: Whole-exome sequencing (WES) and whole genome sequencing (WGS) were performed in a Chinese family having a boy with suspected diagnosis of MPS with macrocephaly, coarse facial features, broad forehead, thick lips, frontal bossing, craniosynostosis, blue spots, frequent upper respiratory infections, inguinal hernia, and dysostosis multiplex.
First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.
Rev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
View Article and Find Full Text PDFJacobsen syndrome associated with Shone's complex: a case report.
Rev Paul Pediatr
January 2025
Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.
Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder.
Case Description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone's complex.
Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under-virilization. A 19-year-old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea.
View Article and Find Full Text PDFClinicopathologic and Molecular Characterization of NUP98-Rearranged Acute Leukemias.
Int J Lab Hematol
January 2025
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Introduction: NUP98 rearrangements are rare in acute leukemias and portend a poor prognosis.
Methods: This study explored clinicopathologic and molecular features of five patients with NUP98 rearranged (NUP98-r) acute leukemias, including three females and two males with a median age of 34 years.
Results: NUP98 fusion partners were associated with distinctive leukemia characteristics and biology.
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