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.

A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies

2011 ◽  
Vol 54 (1) ◽  
pp. 86-88 ◽  
Author(s):  
Mireille M.L. van Diepen ◽  
Antoinet C.J. Gijsbers ◽  
Cathy A.J. Bosch ◽  
Anne Marie Oudesluys-Murphy ◽  
Claudia A.L. Ruivenkamp ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Facial Dysmorphism ◽  
Speech Delay ◽  
Sleeping Problems

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

2012 ◽  
Vol 158A (4) ◽  
pp. 882-887 ◽  
Author(s):  
Antonella Fabretto ◽  
Maria Santa Rocca ◽  
Maria Dolores Perrone ◽  
Aldo Skabar ◽  
Vanna Pecile ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Speech Delay ◽  
Dysmorphic Features

scholarly journals Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

2008 ◽  
Vol 17 (5) ◽  
pp. 573-581 ◽  
Author(s):  
Sandesh Chakravarthy Sreenath Nagamani ◽  
Ayelet Erez ◽  
Christine Eng ◽  
Zhishuo Ou ◽  
Craig Chinault ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Developmental Delay ◽  
Interstitial Deletion ◽  
Microdeletion Syndrome ◽  
Dysmorphic Features

An Additional Case of the Recurrent 15q24.1 Microdeletion Syndrome and Review of the Literature

2011 ◽  
Vol 14 (4) ◽  
pp. 333-339 ◽  
Author(s):  
Ivy S. L. Ng ◽  
Wai-Hoe Chin ◽  
Eileen C. P. Lim ◽  
Ene-Choo Tan
Keyword(s):  
Hearing Loss ◽  
Array Cgh ◽  
Interstitial Deletion ◽  
Additional Case ◽  
Oligonucleotide Array ◽  
Speech Delay ◽  
Review Of The Literature ◽  
Microdeletion Syndrome ◽  
Mild Hearing Loss

We report a 9-year-old girl with 3 Mb interstitial deletion of chromosome 15q24 identified by oligonucleotide array comparative hybridization. She is of Chinese ancestry and shared some typical features of previously reported 15q24 deletion cases such as mild dysmorphism with developmental and speech delay. She also had mild hearing loss that was reported in one other case. We compared all 19 cases that are identified from array-CGH. The deletion occurred within an 8.3 Mb region from 15q23 to 15q24.3. The minimum overlapping deleted region is less than 0.5 Mb from 72.3 Mb to 72.7 Mb. The functions of the nine annotated genes within the region and how they might contribute to the microdeletion phenotype are discussed.

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

2007 ◽  
Vol 146A (1) ◽  
pp. 93-96 ◽  
Author(s):  
Caroline Schluth ◽  
Roselyne Gesny ◽  
Guntram Borck ◽  
Richard Redon ◽  
Véronique Abadie ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Interstitial Deletion ◽  
Facial Dysmorphism

Xq28 duplication in a boy with mental retardation, hyperkinesia and dysmorphic features - a case report

2011 ◽  
Vol 26 (S2) ◽  
pp. 804-804
Author(s):  
B. Budisteanu ◽  
A. Arghir ◽  
A. Tutulan-Cunita ◽  
S.M. Chirieac ◽  
M. Budisteanu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
X Chromosome ◽  
Array Cgh ◽  
Mecp2 Gene ◽  
Speech Delay ◽  
Dysmorphic Features ◽  
The Past ◽  
Xq28 Duplication ◽  
Cerebral Mri ◽  
Pediatric Psychiatry

IntroductionX-linked mental retardation (XLMR) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. Although research during the past decade has identified >90 XLMR genes, many more remain uncharacterized. In XY males, duplication of any part of the X chromosome leads to functional disomy of the corresponding genes.ObjectiveIn this paper we present the case of a boy with a syndrome of Xq28 duplication. Methods: We present a 6 years old boy, admitted in the Department of Pediatric Psychiatry for evaluation. He presented sever mental retardation, autistic features, speech delay, hyperkinesia, and dysmorphic features (high forehead, partial palpebral ptosis, small nose, carp-shaped open mouth, micrognathia), recurrent infections. Cerebral MRI was normal. Genetic investigations, including katyotype with GTG banding and array-CGH, were performed.ResultsArray-CGH indicated a dup(X)(q28) of less than 1.5 Mb. There were 15 duplicated genes, including MECP2 gene, which is involved in autism and mental retardation.ConclusionsDuplications at Xq28 are often associated with autistic features/non-syndromic MR; alterations in MECP2 gene (duplicated in our patient) are described in Rett syndrome or as a specific phenotype. The alteration occurring at Xq28 band is responsible for the patient’s phenotype. Clinical manifestation of this child will be compared with those of other patients with the same duplication previously described to further delineate this syndrome.

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