Terminal deletion of chromosome 1 —a recognizable condition

1996 ◽  
Vol 155 (8) ◽  
pp. 720-720
Author(s):  
J. Schefels ◽  
E. Keller-Röttger ◽  
K. -J. Esser
Keyword(s):  
Chromosome 1 ◽  
Terminal Deletion

Terminal deletion of chromosome 1 – a recognizable condition

1996 ◽  
Vol 155 (8) ◽  
pp. 720 ◽  
Author(s):  
J. Schefels ◽  
E. Keller-Röttger ◽  
K.-J. Esser
Keyword(s):  
Chromosome 1 ◽  
Terminal Deletion

Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1

2002 ◽  
Vol 22 (9) ◽  
pp. 831-834 ◽  
Author(s):  
I. Witters ◽  
J. R. Vermeesch ◽  
W. Gyselaers ◽  
J. P. Fryns
Keyword(s):  
Chromosome 1 ◽  
Terminal Deletion

scholarly journals Terminal deletion of chromosome 1(q43) in a female infant.

1988 ◽  
Vol 25 (3) ◽  
pp. 211-212 ◽  
Author(s):  
G P Garani ◽  
L Tamisari ◽  
S Volpato ◽  
V Vigi
Keyword(s):  
Female Infant ◽  
Chromosome 1 ◽  
Terminal Deletion

scholarly journals A Prenatally AscertainedDe NovoTerminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Carolina Sismani ◽  
Georgia Christopoulou ◽  
Angelos Alexandrou ◽  
Paola Evangelidou ◽  
Jacqueline Donoghue ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Umbilical Artery ◽  
Congenital Abnormalities ◽  
Chromosome 1 ◽  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Single Umbilical Artery ◽  
Female Fetus ◽  
Pierre Robin ◽  
Chromosomal Bands

Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs) and a single umbilical artery (SUA) and therefore amniocentesis was performed. Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb. Following termination of pregnancy, performance of fetopsy allowed further clinical characterization. We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized. In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS). Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.

Terminal deletion of the long arm of chromosome 1 in a malformed newborn

1978 ◽  
Vol 42 (3) ◽  
pp. 333-337 ◽  
Author(s):  
E. Kessel ◽  
R. A. Pfeiffer ◽  
W. Blanke ◽  
J. Schwarz
Keyword(s):  
Chromosome 1 ◽  
Terminal Deletion

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

1991 ◽  
Vol 11 (11) ◽  
pp. 867-873 ◽  
Author(s):  
Siegfried Rotmensch ◽  
Marco Liberati ◽  
Jia-Sen Luo ◽  
Giovanni Tallin ◽  
Maurice J. Mahoney ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosome 1 ◽  
Terminal Deletion

OHDO SYNDROME IN A BOY WITH TERMINAL DELETION OF 4q AND DUPLICATION OF 10q

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
SP Toelle ◽  
D Bartholdi ◽  
M Riegel ◽  
A Schinzel ◽  
E Boltshauser
Keyword(s):  
Terminal Deletion
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