Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review

2009 ◽  
Vol 149A (8) ◽  
pp. 1782-1785 ◽  
Author(s):  
Surasak Puvabanditsin ◽  
Eugene Garrow ◽  
Erik Brandsma ◽  
Jayshree Savla ◽  
Bgee Kunjumon ◽  
...  
Keyword(s):  
Literature Review ◽  
Partial Trisomy ◽  
Clinical Report ◽  
Partial Monosomy

Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review

2013 ◽  
Vol 161 (12) ◽  
pp. 3201-3204 ◽  
Author(s):  
Surasak Puvabanditsin ◽  
Imteyaz Khan ◽  
Eugene Garrow ◽  
Christina Botti ◽  
George Lambert ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Partial Trisomy ◽  
Partial Monosomy

New findings in partial trisomy 16q: clinical report

2004 ◽  
Vol 93 (6) ◽  
pp. 852-854 ◽  
Author(s):  
B Sousa ◽  
G Rocha ◽  
S Doria ◽  
JR Alves ◽  
B Guedes ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Clinical Report ◽  
New Findings

Perinatal findings and molecular cytogenetic analysis ofde novo partial trisomy 16q (16q22.1?qter) and partial monosomy 20q (20q13.3?qter)

2005 ◽  
Vol 25 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yueh-Chun Li ◽  
Schu-Rern Chern ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Molecular Cytogenetic

SIMULTANEOUS OCCURRENCE OF RING "G" CHROMOSOME AND GROUP "B" PERICENTRIC INVERSION IN THE SAME INDIVIDUAL: CASE REPORT AND REVIEW OF THE LITERATURE

PEDIATRICS ◽  
1970 ◽  
Vol 46 (1) ◽  
pp. 74-83
Author(s):  
Howard Singer ◽  
Nona Suzann Scaife
Keyword(s):  
Pericentric Inversion ◽  
Failure To Thrive ◽  
Male Infant ◽  
Partial Trisomy ◽  
Chromosome Breakage ◽  
B Chromosome ◽  
Individual Case ◽  
Simultaneous Occurrence ◽  
Partial Monosomy ◽  
Structural Abnormalities

A male infant with failure to thrive was found to have a previously unreported combination of chromosomal structural abnormalities. Evidence is presented which characterizes the abnormal chromosomes as a late-replicating G ring and a pericentric inversion in an early replicating B group chromosome. The mechanisms of pericentric inversion and ring formation are discussed, and possible genetic consequences are noted. The patient's phenotype differed significantly from that of previously reported subjects with G rings, G deletions, and structural abnormalities of the B group. This phenotypic difference could be attributed to the apparent fact that the proband's G ring was a late replicator (G1) and earlier cases were not, on to the seeming variability in ring size which suggested partial trisomy/partial monosomy, or perhaps to the probability that the abnormal B chromosome was pericentrically inverted rather than deleted. The question of the etiologic significance of broken parental chromosomes must be raised, although more study is needed in the area of chromosome breakage, its relationship to abnormal progeny, and the possible role of environmental agents, e.g., drugs and irradiation.

scholarly journals Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities

2015 ◽  
Vol 145 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Devin M. Cox ◽  
Merlin G. Butler
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormalities ◽  
Receptor Gene ◽  
Partial Trisomy ◽  
Chromosome Translocation ◽  
Fish Analysis ◽  
Partial Monosomy ◽  
Chronic Anemia ◽  
Dysmorphic Features ◽  
History Of

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. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.

Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p

2012 ◽  
Vol 16 (5) ◽  
pp. 473-475
Author(s):  
Ozlem Dikmetas ◽  
Pelin Ozlem Simsek Kiper ◽  
Mehmet C. Mocan ◽  
Eda G. Utine ◽  
Koray Boduroglu ◽  
...  
Keyword(s):  
Anterior Segment ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Anterior Segment Dysgenesis
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