Trisomy 16q is reported in a malformed infant who died at 12 days of age. The karyotype was 46,XX,der(15)t(15;16) (p11;q11)mat. A balanced translocation was found in the mother. The consequences of various types of aneuploidy of chromosome 16 are discussed.
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http://dx.doi.org/10.1136/jmg.16.4.317 | DOI Listing |
BMC Med Genomics
December 2024
Department of Pediatrics, Sichuan Provincial Woman's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).
View Article and Find Full Text PDFBMC Med Genomics
December 2023
Department of Human Pathology of Adulthood and Childhood "G. Barresi", Unit of Paediatrics, University of Messina, Messina, Italy.
Background: Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability (ID) and an increased risk of both prenatal and postnatal lethality. Smaller copy number variants (CNV) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q.
View Article and Find Full Text PDFCytogenet Genome Res
August 2021
SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
Pure partial duplications of the long arm of chromosome 16 are rare and few cases are described with delineation by chromosomal microarray. Data about clinical abnormalities of pure partial 16q duplications are incomplete because many individuals die during the perinatal period. We describe the clinical features of a 47-month-old Brazilian girl with 16q21q24.
View Article and Find Full Text PDFAm J Med Genet A
October 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Trisomy 16 is the most common autosomal trisomy in humans, which is almost uniformly embryonic lethal. Partial trisomy 16 including a segment of the long arm of chromosome 16 is occasionally compatible with life and has been associated with severe congenital defects, growth retardation, and early lethality. Segmental trisomy of 16q is usually described concomitantly with partial monosomy of another chromosome, often resulting from a parental balanced translocation.
View Article and Find Full Text PDFMedicine (Baltimore)
February 2021
Department of Prenatal Diagnosis Medical Center of Xuzhou Central Hospital, Xuzhou Clinical Schools of Xuzhou Medical University and Nanjing Medical University, Xuzhou, Jiangsu, China.
Introduction: Subchromosomal deletions and duplications could currently be detected by noninvasive preliminary screening (NIPS). However, NIPS is a screening test that requires further diagnosis. Here we report a fetus with an autosomal abnormality revealed by NIPS and conventional karyotype combined with copy number variations sequencing (CNV-seq) confirmed the fetus with an unbalanced translocation.
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