Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21

2004 ◽  
Author(s):  
M RIEGEL ◽  
P HARGREAVES ◽  
A BAUMER ◽  
M GUCSCEKIC ◽  
M IGNJATOVIC ◽  
...  
Keyword(s):  
Monosomy 21

scholarly journals Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

2011 ◽  
Vol 28 (7) ◽  
pp. 621-626
Author(s):  
Monica Martinez-Garcia ◽  
Eva Ainse ◽  
Maria García-Hoyos ◽  
Ana Bustamante ◽  
Rocio Cardero ◽  
...  
Keyword(s):  
Molecular Cytogenetic ◽  
Monosomy 21 ◽  
Molecular Cytogenetic Techniques

Study of a patient with apparent monosomy 21 owing to translocation: 45,XX,21–,t(18q+)

1971 ◽  
Vol 10 (6) ◽  
pp. 413-426 ◽  
Author(s):  
H.E. Wyandt ◽  
F. Hecht ◽  
E.W. Lovrien ◽  
R.E. Stewart
Keyword(s):  
Monosomy 21

High-Resolution Physical Mapping of a 6.7-Mb YAC Contig Spanning a Region Critical for the Monosomy 21 Phenotype in 21q21.3–q22.1

Genomics ◽  
1997 ◽  
Vol 43 (1) ◽  
pp. 25-33 ◽  
Author(s):  
Robert Orti ◽  
Andre Mégarbane ◽  
Catherine Maunoury ◽  
Christine Van Broeckhoven ◽  
Pierre Marie Sinet ◽  
...  
Keyword(s):  
High Resolution ◽  
Physical Mapping ◽  
Monosomy 21 ◽  
Yac Contig

scholarly journals Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region

PLoS Genetics ◽  
2015 ◽  
Vol 11 (3) ◽  
pp. e1005062 ◽  
Author(s):  
Véronique Brault ◽  
Arnaud Duchon ◽  
Caroline Romestaing ◽  
Ignasi Sahun ◽  
Stéphanie Pothion ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Mouse Models ◽  
Partial Trisomy ◽  
Locomotor Function ◽  
Monosomy 21

A female infant with monosomy 21

1976 ◽  
Vol 31 (3) ◽  
pp. 351-353 ◽  
Author(s):  
P. Dziuba ◽  
D. Dziekanowska ◽  
H. H�bner
Keyword(s):  
Female Infant ◽  
Monosomy 21

Monosomy 21: A possible stepwise evolution of the karyotype

1979 ◽  
Vol 4 (3) ◽  
pp. 279-286 ◽  
Author(s):  
Dvorah Abeliovich ◽  
Rivka Carmi ◽  
Michael Karplus ◽  
Jacob Bar-Ziv ◽  
Maimon M. Cohen ◽  
...  
Keyword(s):  
Monosomy 21 ◽  
Stepwise Evolution

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.

scholarly journals Expression of LFA-1 by a lymphoblastoid cell line from a patient with monosomy 21: effects on intercellular adhesion

2008 ◽  
Vol 81 (3) ◽  
pp. 501-506 ◽  
Author(s):  
G. M. TAYLOR ◽  
D. BRADDOCK ◽  
A. J. ROBSON ◽  
W. D. FERGUSSON ◽  
D. P. DUCKETT ◽  
...  
Keyword(s):  
Cell Line ◽  
Lymphoblastoid Cell Line ◽  
Intercellular Adhesion ◽  
Monosomy 21
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