scholarly journals Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative Schizophrenia-Susceptibility Locus at 5q21-23.1

1997 ◽  
Vol 61 (6) ◽  
pp. 1450-1454 ◽  
Author(s):  
Robin L. Bennett ◽  
Maria Karayiorgou ◽  
Christina A. Sobin ◽  
Tom H. Norwood ◽  
Mark A. Kay
Keyword(s):  
Mental Retardation ◽  
Adult Female ◽  
Interstitial Deletion ◽  
Susceptibility Locus ◽  
Dysmorphic Features ◽  
Schizophrenia Susceptibility

Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Ioannis Papoulidis ◽  
Vassilis Paspaliaris ◽  
Elena Papageorgiou ◽  
Elissavet Siomou ◽  
Themistoklis Dagklis ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Interstitial Deletion ◽  
Facial Dysmorphism ◽  
Whole Genome ◽  
Chromosomal Band ◽  
Speech Delay ◽  
Microdeletion Syndrome ◽  
Mild Phenotype ◽  
Dysmorphic Features ◽  
Growth Deficiency

A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested.

Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies

1983 ◽  
Vol 64 (1) ◽  
pp. 97-97 ◽  
Author(s):  
P. Franceschini ◽  
M. Cirillo Silengo ◽  
G. Davi ◽  
R. Bianco ◽  
M. Biagioli
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Chromosome 3

scholarly journals Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

1995 ◽  
Vol 32 (10) ◽  
pp. 792-795 ◽  
Author(s):  
J J M Engelen ◽  
C E M d. Die-Smulders ◽  
J M J Sijstermans ◽  
L E C Meers ◽  
J C M Albrechts ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Mild Mental Retardation ◽  
Dysmorphic Features

Familial 13p+ chromosome with mental retardation and dysmorphic features in two children

1976 ◽  
Vol 34 (1) ◽  
Author(s):  
C. Stoll ◽  
A. Rohmer ◽  
R. Korn ◽  
G. Heumann
Keyword(s):  
Mental Retardation ◽  
Dysmorphic Features

Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

2009 ◽  
Vol 52 (1) ◽  
pp. 49-52 ◽  
Author(s):  
James Lespinasse ◽  
Stefania Gimelli ◽  
Frédérique Béna ◽  
Stylianos E. Antonarakis ◽  
François Ansermet ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Interstitial Deletion ◽  
Language Delay ◽  
Mild Mental Retardation

scholarly journals Inv dup (15) with mental retardation but few dysmorphic features.

1984 ◽  
Vol 21 (3) ◽  
pp. 221-223 ◽  
Author(s):  
D H Gilmore ◽  
E Boyd ◽  
J P McClure ◽  
P Batstone ◽  
J M Connor
Keyword(s):  
Mental Retardation ◽  
Dysmorphic Features
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