A t(5;16)(p15.32;q23.3) generating 16q23.3 → qter duplication and 5p15.32 → pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay

2010 ◽  
pp. n/a-n/a
Author(s):  
Ali Hellani ◽  
Sarar Mohamed ◽  
Siham Al-Akoum ◽  
Thomas M. Bosley ◽  
Khaled K. Abu-Amero
Keyword(s):  
Mental Retardation ◽  
Speech Delay ◽  
Dysmorphic Features

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.

A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay

2014 ◽  
Vol 93 (1) ◽  
pp. 159-162 ◽  
Author(s):  
QINYING CAO ◽  
YUANYUAN PENG ◽  
JUN GE ◽  
YANHUA ZHANG ◽  
JUNZHEN ZHU ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Speech Delay ◽  
Dysmorphic Features

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.

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

2018 ◽  
Vol 34 (2) ◽  
pp. 86-93 ◽  
Author(s):  
John C. Herriges ◽  
Ellen M. Arch ◽  
Pamela A. Burgio ◽  
Erin E. Baldwin ◽  
Danielle LaGrave ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Learning Difficulties ◽  
Growth Failure ◽  
Speech Delay ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Additional Insight ◽  
Dysmorphic Features ◽  
Phenotypic Spectrum ◽  
Insight Into

To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26.2. Family I carries a 5.3-Mb duplication involving 26 genes. This duplication was identified in 3 patients and was associated with microcephaly, growth failure, developmental delay, and dysmorphic features. Family II carries an overlapping 791-kb duplication that involves 3 genes. This duplication was identified in 3 patients and was associated with learning disability and speech delay. The size and gene content of published overlapping Xq25q26.2 duplications vary, making it difficult to define a critical region or establish a genotype-phenotype correlation. However, patients with overlapping duplications have been found to share common clinical features including microcephaly, growth failure, intellectual disability, learning difficulties, and dysmorphic features. The 2 families presented here provide additional insight into the phenotypic spectrum and clinical significance of duplications in this region.

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

scholarly journals Preventing Communicative Disadaptation in Senior Preschool Children with Health Impairments in the Conditions of Educational Integration

2021 ◽  
pp. 167-176
Author(s):  
Е.Е. Дмитриева ◽  
Ю.П. Давыдова
Keyword(s):  
Mental Retardation ◽  
Preschool Children ◽  
Personal Development ◽  
Risk Groups ◽  
Speech Delay ◽  
Relevant Issue ◽  
Communication Problems ◽  
Theoretical Approaches ◽  
Educational Integration ◽  
Health Impairments

В статье рассматривается актуальная проблема специальной психологии — коммуникативная дезадаптация. Представлены результаты теоретико-экспери­ментального изучения предпосылок коммуникативной дезадаптации старших дошкольников с задержкой психического развития и общим недоразвитием речи в условиях образовательной интеграции. Обоснованы теоретические подходы к изучению проблемы коммуникативно-личностного развития детей с разными вариантами нарушенного развития. Авторами выявлен дисбаланс в развитии мотивационных и операциональных компонентов общения у дошкольников, выделены дети группы риска, раскрыты механизмы возникновения коммуникативной дезадаптации у дошкольников с задержкой психического развития и общим недоразвитием речи, с учетом чего дифференцированы задачи коррекционного воздействия с целью коммуникативно-личностного развития этих детей и профилактики возникновения у них коммуникативных трудностей. Методологию исследования составляет коммуникативный подход к диагностике и коррекции коммуникативно-личностного развития старших дошкольников в условиях дизонтогенеза. Коммуникативный дизонтогенез рассматривается в контексте понятия «коммуникативная дезадаптация», а в качестве механизма возникновения коммуникативной дезадаптации у старших дошкольников с задержкой психического развития и общим недоразвитием речи — рассогласование в развитии мотивационной и операциональной сфер их общения. The article focuses on communicative disadaptation, as a relevant issue of special psychology. The article presents the results of theoretical and experimental investigation of the precursors of communicative disadaptation in preschool children with mental retardation and speech delay in the conditions of educational integration. The article substantiates theoretical approaches to the investigation of communication development of children with health impairments. The authors analyze the unbalanced development of motivational and operational components of communication in preschool children, describe risk groups, discuss the mechanisms of communicative disadaptation syndrome development in children with mental retardation and speech delay, which enables the authors to single out correctional strategies aimed at children’s communicative and personal development and communication problems prevention. The research is performed within the framework of a communicative approach, it focuses on the assessment and correction of senior preschool children’s communicative and personal development associated with disonthogenesis. Communicative disonthogenesis is treated through the prism of communicative disadaptation, whose mechanism is associated with mental retardation and speech delay in senior preschool children.

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
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