We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.
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http://dx.doi.org/10.1002/ajmg.1320430324 | DOI Listing |
J Appl Genet
February 2023
Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8, 60-806, Poznań, Poland.
Partial 16p trisomy syndrome is a rare disorder typically characterized by psychomotor retardation, prenatal and postnatal growth deficiency, cleft palate, and facial dysmorphism, with some patients also presenting with heart defects and urogenital anomalies. Pure 16p13.3 duplications usually occur de novo, while those duplications that associate with partial monosomy result rather from parental chromosomal translocations.
View Article and Find Full Text PDFJ Genet
December 2021
Institute of Science, Nirma University, Ahmedabad 382 481, India.
Chromosomal aberrations such as parental balanced translocation contribute to a significant proportion of recurrent pregnancy losses. These have extreme genetic implications on the foetus which can either cause physical and/or mental retardation or early death. In this study, we report a unique clinical case of a couple with three consecutive pregnancy losses and we aim to determine the genetic abnormalities causing the miscarriages.
View Article and Find Full Text PDFCytogenet Genome Res
September 2015
Department of Psychiatry, University of Kansas Medical Center, Kansas City, Kans., USA.
We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly.
View Article and Find Full Text PDFMol Cytogenet
May 2014
Department of Pathology, Cytogenomics Laboratory, LIM 03, HC-FMUSP, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, São Paulo 05403-000, Brazil.
Background: Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from more than one chromosome and have been implicated in reproductive problems such as recurrent pregnancy loss. They may also be associated with congenital abnormalities in the offspring of carriers. Due to its genomic architecture, chromosome 15 is frequently associated with rearrangements and the formation of sSMCs.
View Article and Find Full Text PDFAnn Diagn Pathol
February 2014
Clarient/GE Healthcare, Aliso Viejo, CA; MD Anderson Cancer Center/University of Texas, Houston, TX. Electronic address:
Histiocytic disorders have been noted to have evidence of transdifferentiation; examples of cases with combinations of different lineages have been shown. In our index case, we identified interdigitating dendritic cell (IDC) differentiation in a case of Langerhans cell histiocytosis (LCH). Little is currently known about the genetics of IDC sarcoma (IDCS) because they are exceedingly rare.
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