Abnormal clavicles in a neonate with partial monosomy 21 by Wang and Aftimos, New Zealand

1999 ◽  
Vol 29 (9) ◽  
pp. A720-A720 ◽  
Author(s):  
E. Michel Azouz
Keyword(s):  
New Zealand ◽  
Partial Monosomy ◽  
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.

Partial Monosomy 21, Diminished Activity of Superoxide Dismutase, and Pulmonary Oxygen Toxicity

1988 ◽  
Vol 318 (25) ◽  
pp. 1666-1669 ◽  
Author(s):  
Alice D. Ackerman ◽  
James C. Fackler ◽  
Cathy M. Tuck-Muller ◽  
Margaret M. Tarpey ◽  
Bruce A. Freeman ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Oxygen Toxicity ◽  
Partial Monosomy ◽  
Monosomy 21

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

scholarly journals De novo partial monosomy 21 with unusual karyotype

1986 ◽  
Vol 31 (1) ◽  
pp. 45-48 ◽  
Author(s):  
S. A. Al-Awadi ◽  
K. K. Naguib ◽  
A. S. Teebi ◽  
T. S. Sundareshan
Keyword(s):  
De Novo ◽  
Partial Monosomy ◽  
Monosomy 21

Abnormal clavicles in a neonate with partial monosomy 21

1999 ◽  
Vol 29 (3) ◽  
pp. 221-222 ◽  
Author(s):  
Sharon H. Wang ◽  
S. Aftimos
Keyword(s):  
Partial Monosomy ◽  
Monosomy 21

scholarly journals Deletion of the App-Runx1 region in mice models human partial monosomy 21

2015 ◽  
Vol 8 (6) ◽  
pp. 623-634 ◽  
Author(s):  
T. Arbogast ◽  
M. Raveau ◽  
C. Chevalier ◽  
V. Nalesso ◽  
D. Dembele ◽  
...  
Keyword(s):  
Partial Monosomy ◽  
Monosomy 21
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