scholarly journals Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray

2016 ◽  
Vol 36 (2) ◽  
pp. 191-193 ◽  
Author(s):  
Moonhee Oh ◽  
In-Jeong Cho ◽  
Saeam Shin ◽  
Seung-Tae Lee ◽  
Jong Rak Choi
Keyword(s):  
Mental Retardation ◽  
Male Patient ◽  
Chromosomal Microarray ◽  
Cardiac Defect ◽  
9P Duplication

scholarly journals Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review

2017 ◽  
Vol 06 (04) ◽  
pp. 227-233 ◽  
Author(s):  
Irina Novikova ◽  
Paushpala Sen ◽  
Ann Manzardo ◽  
Merlin Butler
Keyword(s):  
Intellectual Disability ◽  
Male Patient ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Report ◽  
Intrauterine Growth ◽  
Interstitial Duplication ◽  
Craniofacial Features ◽  
Sparse Hair ◽  
Small Mouth

AbstractWe present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495–4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur. All patients were found to have a psychomotor developmental delay and/or intellectual disability with the majority having microcephaly, intrauterine growth retardation, and hypotonia. Common craniofacial findings included a tall, prominent forehead, an elongated face, epicanthal folds, hypertelorism, prominent low-set ears, philtrum anomaly, and a small mouth. Other less common features included abnormal digits, sparse hair, and cardiac defects. Clinical features, chromosome duplication sizes, locations, and the number of genes will be summarized in a tabular form.

P-773 - Episodic psychogenic polydipsia and water intoxication in a male patient with mental retardation

2012 ◽  
Vol 27 ◽  
pp. 1
Author(s):  
Ö. Tuna ◽  
N. Üstün ◽  
E. Yıldızhan ◽  
N. Eradamlar ◽  
L. Alpkan
Keyword(s):  
Mental Retardation ◽  
Male Patient ◽  
Water Intoxication ◽  
Psychogenic Polydipsia

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation

2009 ◽  
Vol 18 (1) ◽  
pp. 9-12 ◽  
Author(s):  
Milen Velinov ◽  
Antonio Novelli ◽  
Hong Gu ◽  
Michael Fenko ◽  
Natalia Dolzhanskaya ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Male Patient ◽  
De Novo

scholarly journals NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation

2001 ◽  
Vol 11 (18) ◽  
pp. 1381-1391 ◽  
Author(s):  
Lin Jun ◽  
Suzanna Frints ◽  
Hein Duhamel ◽  
Andrea Herold ◽  
Jose Abad-Rodrigues ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Male Patient ◽  
Nuclear Rna ◽  
Rna Export ◽  
Nuclear Rna Export

Cornelia De Lange Syndrome in Iraq

2020 ◽  
Vol 2 (02) ◽  
pp. 01-04
Author(s):  
Aamir Mosawi
Keyword(s):  
Mental Retardation ◽  
Male Patient ◽  
Growth Retardation ◽  
Cornelia De Lange Syndrome ◽  
Facial Dysmorphism ◽  
Upper Lip ◽  
Nasal Bridge ◽  
Short Nose ◽  
Convergent Squint ◽  
Cornelia De Lange

Background: Cornelia de Lange syndrome is a rare syndrome of highly variable phenotype making a spectrum ranging from classic syndrome with many cardinal features to mild condition few cardinal features. Typically patients with classic syndrome had growth and mental retardation and distinctive facial dysmorphism including thick (bushy) and / or long eyebrows commonly with synophrys, short nose with depressed or concave nasal bridge and/or upturned nasal tip , long or smooth or indistinct philtrum, thin upper lip vermilion and/or downturned corners of mouth, and low set ears. The diagnosis of the syndrome is clinical. Ocular abnormalities that can be associated with Cornelia de Lang syndrome squint, nystagmus, refractive errors, and ptosis. Materials and methods: The occurrence of Cornelia de Lange syndrome has not been reported or well-documented. The first four Iraqi patients (Three boys and one girl) with Cornelia de Lange syndrome are described. The relevant literatures were reviewed with aim of determining the early documentation of the syndrome in the medical literatures. Results: All the patients were sporadic cases and had growth retardation, severe mental retardation with significant developmental delay, thick eye brows with some degree of synophrys, short nose with depressed or concave nasal bridge, and low set ears. All the patients had normal karyotype. One male patient had all of the classical features including long smooth and indistinct philtrum, thin upper lip vermilion, and downturned corners of mouth. The second male patient had a concave nasal bridge that becomes more obvious during crying, nystagmus and bilateral convergent squint. The third boy had milder dysmorphic features. The fourth patient was a girl who was the second of a twin. She had severe growth retardation and was hypotonic with poor head control. She also had bilateral convergent squint, refractive error, and reduction in visual acuity. Conclusion: The first four Iraqi patients with Cornelia de Lang syndrome are reported.

A maternally inherited Interstitial Xq21 deletion associated with deafness and mental retardation syndrome in a male patient

2021 ◽  
pp. 50-52
Author(s):  
Ж.Г. Маркова ◽  
М.Е. Миньженкова ◽  
Н.А. Демина ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Speech Development ◽  
Chromosomal Microarray ◽  
Congenital Defects ◽  
Chromosomal Microarray Analysis ◽  
Mild Phenotype ◽  
Number Of Patients ◽  
Causative Effect ◽  
Female Carriers ◽  
Apparently Healthy

Клиническое значение делеции района q21 хромосомы X у мужчин все еще плохо изучено. Было показано, что делеция Xq21, включающая гены POU3F4, CHM и ZNF711, может приводить к глухоте, умственной отсталости и хороидеремии. Несмотря на тяжелые симптомы, наблюдаемые у пробандов-мужчин, большинство носителей женского пола бессимптомны или имеют незначительные фенотипические проявления. Представлена клиническая и молекулярно-цитогенетическая характеристика случая делеции района q21.1-q21.31 хромосомы X, выявленной при проведении хромосомного микроматричного анализа у пациента с задержкой психоречевого развития, лицевыми дизморфиями и тугоухостью. Такая же делеция была выявлена у практически здоровой матери. Наши данные способствуют дальнейшему пониманию корреляции между делецией Xq21 и аномальным фенотипом. Deletions on the X chromosome can lead to serious birth defects. Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Only a limited number of patients with Xq21 deletions has been reported. It has been shown that deletions of the adjacent Xq21 genes, including the POU3F4, CHM and ZNF711 genes, can lead to deafness and mental retardation syndrome and choroideremia. Despite the severe symptoms exhibited by male probands, most female carriers are asymptomatic or exhibit only a mild phenotype. The article presents the clinical and molecular-cytogenetic characteristics of a case of deletion of the Xq21.1-q21.31 region of chromosome X, revealed during chromosomal microarray analysis in a patient with delayed psycho-speech development, facial dysmorphisms and hearing loss. The same deletion was found in an apparently healthy mother. Our study confirms the causative effect between the Xq21 deletion in males and choroideremia, deafness and mental retardation.

scholarly journals A complete case of Cantrell's Pentalogy with isolated left ventricular diverticulum

2021 ◽  
Author(s):  
Begum Ogunc ◽  
Serdar Başgöze ◽  
Ersin Erek
Keyword(s):  
Male Patient ◽  
Left Ventricular ◽  
Cardiac Malformation ◽  
Cardiac Defect ◽  
Complete Case ◽  
Cardiac Defects ◽  
Ventricular Diverticulum ◽  
Left Ventricular Diverticulum ◽  
Cantrell's Pentalogy

The congenital left ventricular diverticulum is a rare cardiac malformation, and it may associate with Cantrell’s Pentalogy with other cardiac defects. However, isolated ventricular diverticulum without any other cardiac defect in complete Cantrell’s syndrome is very rare. We describe a 6-year-old male patient with a complete Cantrell’s syndrome with isolated left ventricular diverticulum.

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