scholarly journals Familial Translocation t(6;20)(p21;p13) Resulting in Partial Trisomy 6p and Partial Monosomy 20p: Report of a New Case and Review of the Literature

2012 ◽  
Vol 136 (4) ◽  
pp. 308-313 ◽  
Author(s):  
A.L. Berner ◽  
S. Bağci ◽  
E. Wohlleber ◽  
E. Engels ◽  
A. Müller ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Review Of The Literature ◽  
Partial Monosomy ◽  
Familial Translocation

Familial Translocation t(5;15)(p14.2;q26.2) Causing a Mirror Combination of Several Known Genetic Conditions

2017 ◽  
Vol 15 (06) ◽  
pp. 332-337
Author(s):  
Yael Goldberg ◽  
Racheli Berger ◽  
Amir Peleg ◽  
Lena Sagi-Dain
Keyword(s):  
Clinical Features ◽  
Partial Trisomy ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Familial Translocation ◽  
Partial Monosomy 5P

AbstractTwo siblings with an unbalanced cytogenetic composition are described: a brother with partial trisomy 5p and distal 15q microdeletion, and a sister with partial monosomy 5p and distal 15q microduplication, resulting from a familial balanced translocation 46,XY; t(5;15)(p14.2;q26.2). To our best knowledge, there are no previous clinical and cytogenetic reports in the literature describing a family with concomitant presence of such a unique mirror combination. Clinical features of pure imbalances and the effects of their combination are discussed.

scholarly journals Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Yuan Wei ◽  
Xuefeng Gao ◽  
Liying Yan ◽  
Fang Xu ◽  
Peining Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Partial Trisomy ◽  
Psychomotor Retardation ◽  
Oligonucleotide Array ◽  
Comparative Genomic ◽  
Review Of The Literature ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Neonatal Deaths ◽  
Ultrasound Monitoring

We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths. The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33). Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339 Mb distal deletion at 10p15.3 (chr10:126,161–2,465,089) and a 46.344 Mb duplication of 13q21.33–q34 (chr13:67,779,708–114,123,540). Ultrasound examination showed polydactyly and polyhydramnios in the fetus. After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities. A girl was delivered at 37+6weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours. She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month. Her birth weight was 2900 g (10–25th centile) and at five months was 5500 g (5–10th centile). She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities. We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.

Partial trisomy 10p and familial translocation t(7;10)(p22;p12)

1977 ◽  
Vol 35 (3) ◽  
pp. 353-356 ◽  
Author(s):  
George Johnson ◽  
Ronald Bachman ◽  
Terry Roed ◽  
Peggy Riddervold
Keyword(s):  
Partial Trisomy ◽  
Familial Translocation

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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