scholarly journals Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay

Gene ◽  
2013 ◽  
Vol 513 (2) ◽  
pp. 301-304 ◽  
Author(s):  
Ana Paula dos Santos ◽  
Társis Paiva Vieira ◽  
Milena Simioni ◽  
Fabíola Paoli Monteiro ◽  
Vera Lúcia Gil-da-Silva-Lopes
Keyword(s):  
Developmental Delay ◽  
Unbalanced Translocation ◽  
Partial Monosomy ◽  
Dysmorphic Features ◽  
Monosomy 21

Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature

2017 ◽  
Vol 153 (2) ◽  
pp. 81-85 ◽  
Author(s):  
Andréa C.M. Malinverni ◽  
Érika M. Yamashiro Coelho ◽  
Kelin Chen ◽  
Mileny E. Colovati ◽  
Mirlene C. Soares Pinho Cernach ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Manifestation ◽  
Great Variability ◽  
Review Of The Literature ◽  
Partial Monosomy ◽  
Dysmorphic Features ◽  
Large Size ◽  
Monosomy 21

Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.

Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1

2011 ◽  
Vol 54 (2) ◽  
pp. 189-193 ◽  
Author(s):  
Regina M. Zambrano ◽  
Elizabeth Wohler ◽  
Göran Annerén ◽  
Ann-Charlotte Thuresson ◽  
Garry R. Cutting ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chromosome 9 ◽  
Derivative Chromosome ◽  
Unbalanced Translocation ◽  
Dysmorphic Features

scholarly journals Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

2020 ◽  
Vol 23 (1) ◽  
pp. 99-102
Author(s):  
A Karaman ◽  
B Karaman ◽  
A Çetinkaya ◽  
S Karaman ◽  
O Demirci
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
De Novo ◽  
Ultrasound Examination ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Second Trimester ◽  
Partial Monosomy ◽  
Genetic Studies ◽  
Dysmorphic Features

AbstractA 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks’ gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.

scholarly journals Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.

1989 ◽  
Vol 26 (11) ◽  
pp. 729-730 ◽  
Author(s):  
L A Brueton ◽  
J C Barber ◽  
S M Huson ◽  
R M Winter
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Partial Monosomy ◽  
Dysmorphic Features

scholarly journals Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

2018 ◽  
Vol 93 (4) ◽  
pp. 752-761 ◽  
Author(s):  
Z. Powis ◽  
K.D. Farwell Hagman ◽  
C. Mroske ◽  
K. McWalter ◽  
J.S. Cohen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Dysmorphic Features ◽  
Reduced Penetrance

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.

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