scholarly journals A child with partial trisomy 4 (q26 – qterminal) resulting from paternally inherited translocation (4:18) associated with multiple congenital anomalies and death

2019 ◽  
Vol 10 (1) ◽  
pp. 1
Author(s):  
Birendranath Banerjee ◽  
Abhik Chakraborty ◽  
SantoshKumar Panda ◽  
NirmalKumar Mohakud ◽  
Debarshi Roy ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Multiple Congenital Anomalies

scholarly journals A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
C. S. Paththinige ◽  
N. D. Sirisena ◽  
U. G. I. U. Kariyawasam ◽  
R. C. Ediriweera ◽  
P. Kruszka ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Review Of Literature ◽  
Multiple Congenital Anomalies ◽  
Balanced Translocation

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16

2001 ◽  
Vol 43 (02) ◽  
pp. 130
Author(s):  
Nicole Schmidt ◽  
Don C Van Dyke ◽  
Kim Keppler-Noreuil ◽  
Ann Muilenburg ◽  
Shivanand Patil ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Unique Combination ◽  
Multiple Congenital Anomalies ◽  
Partial Monosomy ◽  
Trisomy 16

MULTIPLE CONGENITAL ANOMALIES IN THE E1-TRISOMY (GROUP 16-18) SYNDROME

PEDIATRICS ◽  
1964 ◽  
Vol 33 (2) ◽  
pp. 258-270
Author(s):  
Russell A. Rohde ◽  
Joan E. Hodgman ◽  
Robert S. Cleland
Keyword(s):  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Diagnostic Value ◽  
Multiple Congenital Anomalies ◽  
Autosomal Trisomy ◽  
Normal Mean ◽  
Gross Lesions ◽  
Chromosome Pattern ◽  
Thyroglossal Duct Cysts ◽  
Relationship Of

In this paper are described the clinical, necropsy, and cytogenetic findings in an infant with multiple congenital anomalies associated with autosomal trisomy in group E. Thirty-three previously recorded cases having a similar chromosomal abnormality are reviewed. Because of uncertainty in identifying the trisomic chromosome in group E, we propose that these cases be termed the "E1-trisomy syndrome." The clinical features of this syndrome are sufficiently distinctive to afford tentative diagnosis. Although absolute diagnosis currently rests upon complete cytogenetic analysis, dermatoglyphics and biochemical defects may eventually prove to be of diagnostic value. Despite a normal mean gestational age, these infants are usually premature in weight. All but three cases have been reported in Caucasians and thus far there has been a preponderance of affected females. Most patients die in infancy from infection or congestive heart failure. The mean age at death has been 102 days. Grossly evident malformations of heart, gastrointestinal tract and kidneys are the most consistently reported abnormalities at necropsy. The infrequent reports of histologic abnormalities include instances of ectopic pancreas and isolated descriptions of dysplastic changes in various organs. A unique microscopic lesion of the pancreas seen in this and one other reported case deserves further study. Two previously unreported gross lesions, thyroglossal duct cysts and gluteal lipoma, were found in this patient. Occasionally, the E1,-trisomy syndrome may, apparently, be associated with partial trisomy, trisomy-translocations, mosaicism, double trisomies, and in one instance, an apparently normal chromosome pattern. Pathogenesis of the chromosomal disturbance remains unknown, although advanced parental age appears important. The role of infection and radiation reported infrequently in this disorder is not clear. Further reporting of the E-trisomy syndrome in extensio, is expected to elucidate many of the unsolved features of the chromosomal syndromes, particularly those relating to the causal relationship of chromosomal aberration and pathogenesis.

Partial trisomy of short arm of chromosome 8 (46,XY, inv dup (8) (p21→pter) in a Bedouin child with multiple congenital anomalies and mental retardation

1994 ◽  
Vol 61 (3) ◽  
pp. 301-306
Author(s):  
A. A. Redha ◽  
D. S. Krishna Murthy ◽  
H. Kandil ◽  
T. I. Farag ◽  
R. Usha ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Chromosome 8 ◽  
Multiple Congenital Anomalies

scholarly journals Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

2021 ◽  
Vol 12 ◽  
Author(s):  
Jian Wang ◽  
Shiyuan Zhou ◽  
Fei He ◽  
Xuelian Zhang ◽  
Jianqi Lu ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Critical Region ◽  
Congenital Anomalies ◽  
Clinical Symptoms ◽  
Partial Trisomy ◽  
Multiple Congenital Anomalies ◽  
Microdeletion Syndrome ◽  
Partial Monosomy

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies

2013 ◽  
Vol 161 (2) ◽  
pp. 327-330 ◽  
Author(s):  
Haiyan Zhu ◽  
Yali Hu ◽  
Ruifang Zhu ◽  
Ying Yang ◽  
Xiangyu Zhu ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Multiple Congenital Anomalies

scholarly journals Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16

2007 ◽  
Vol 43 (2) ◽  
pp. 130-132
Author(s):  
Nicole Schmidt ◽  
Don C Van Dyke ◽  
Kim Keppler-Noreuil ◽  
Ann Muilenburg ◽  
Shivanand Patil ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Unique Combination ◽  
Multiple Congenital Anomalies ◽  
Partial Monosomy ◽  
Trisomy 16

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

2000 ◽  
Vol 16 (3) ◽  
pp. 0176 ◽  
Author(s):  
M. C. Esmer ◽  
G. Rodriguez-Soto ◽  
D. Carrasco-Daza ◽  
M. L. Iracheta ◽  
V. Del Castillo
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
In Utero ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Cloverleaf Skull
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