scholarly journals An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Trupti Kale ◽  
Melissa Philip
Keyword(s):  
Intellectual Disability ◽  
Interstitial Deletion ◽  
Language Delay ◽  
Facial Features ◽  
Rare Entity ◽  
Review Of The Literature ◽  
Phenotypic Profile ◽  
Concise Review ◽  
Phenotypic Variations ◽  
Primary Focus

Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.

scholarly journals Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Kristen Dilzell ◽  
Diana Darcy ◽  
John Sum ◽  
Robert Wallerstein
Keyword(s):  
Intellectual Disability ◽  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Facial Features ◽  
Chromosome Deletion ◽  
Recent Onset ◽  
Dysmorphic Features ◽  
7Q Deletion

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

2005 ◽  
Vol 20 (4) ◽  
Author(s):  
Marcelo L. P. Sobral ◽  
Luis A. S. Santos ◽  
Gilmar G. Santos ◽  
Noedir A. G. Stolf
Keyword(s):  
Case Report ◽  
Coronary Artery ◽  
Coronary Artery Bypass ◽  
Coronary Artery Bypass Surgery ◽  
Bypass Surgery ◽  
Artery Bypass ◽  
Review Of The Literature ◽  
Concise Review

Indoor PM2.5 concentrations in China: A concise review of the literature published in the past 40 years

2021 ◽  
pp. 107898
Author(s):  
Ao Zhang ◽  
Yumeng Liu ◽  
Bin Zhao ◽  
Yinping Zhang ◽  
Haidong Kan ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
The Past ◽  
Concise Review ◽  
Indoor Pm2.5

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

2021 ◽  
Author(s):  
Aleksandra Jakubiak ◽  
Krzysztof Szczałuba ◽  
Magdalena Badura-Stronka ◽  
Anna Kutkowska-Kaźmierczak ◽  
Anna Jakubiuk-Tomaszuk ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Anomalies ◽  
Chromosomal Region ◽  
Neurodevelopmental Disorder ◽  
Hirschsprung Disease ◽  
Psychomotor Retardation ◽  
Facial Features ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Intragenic Deletions

AbstractMowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Characteristic dysmorphic features, psychomotor retardation, intellectual disability, and congenital anomalies were present in all cases. The incidence of most common congenital anomalies (heart defect, Hirschsprung disease, brain defects) was similar to presented in literature. Epilepsy was less common compared to previously reported cases. Although the spectrum of disorders in patients with Mowat-Wilson syndrome is wide, knowledge of characteristic dysmorphic features awareness of accompanying abnormalities, especially intellectual disability, improves detection of the syndrome.

scholarly journals Squamous Cell Carcinoma of Kidney and Its Prognosis: A Case Report and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Tapan Kumar Sahoo ◽  
Saroj Kumar Das ◽  
Chandraprava Mishra ◽  
Ipsita Dhal ◽  
Rohani Nayak ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Radical Nephrectomy ◽  
Advanced Stage ◽  
Rare Entity ◽  
Primary Squamous Cell Carcinoma ◽  
Review Of The Literature ◽  
Radiological Features ◽  
The Right

Primary squamous cell carcinoma of the renal parenchyma is an extremely rare entity. The diagnosis of squamous cell carcinoma of the renal pelvis is usually unsuspected due to the rarity and inconclusive clinical and radiological features. Most of the patients are diagnosed at an advanced stage and are with poor outcome. Radical nephrectomy is the mainstay of the treatment. We reported a case of squamous cell carcinoma of the kidney in a 50-year-old female who presented with the right sided abdomen pain. The patient was treated with radical nephrectomy.

BOWENOID BASAL CELL CARCINOMA OF THE THUMB: A CASE REPORT AND REVIEW OF THE LITERATURE

Hand Surgery ◽  
2002 ◽  
Vol 07 (02) ◽  
pp. 295-298 ◽  
Author(s):  
M. Galeano ◽  
M. Colonna ◽  
M. Lentini ◽  
F. Stagno D'Alcontres
Keyword(s):  
Case Report ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Basal Layer ◽  
Rare Entity ◽  
Review Of The Literature ◽  
Skin Malignancy ◽  
Root Sheath ◽  
Common Skin

Basal cell carcinoma (BCC) is the most common skin malignancy arising from cells of the basal layer of the epithelium or from the external root sheath of the hair follicle. BCC of the digit is a rare entity. The article presents one such case of bowenoid BCC of the thumb which required amputation at the MP joint.

scholarly journals Dysgenetic Polycystic Disease of Minor Salivary Gland: A Rare Case Report and Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-5
Author(s):  
N. Srikant ◽  
Shweta Yellapurkar ◽  
Karen Boaz ◽  
Mohan Baliga ◽  
Nidhi Manaktala ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Salivary Gland ◽  
Case Report ◽  
Rare Case ◽  
Minor Salivary Gland ◽  
Rare Entity ◽  
Review Of The Literature ◽  
Lower Lip ◽  
Polycystic Disease ◽  
Rare Case Report

Polycystic (dysgenetic) disease of the salivary glands is a rare entity that has only recently been described in the literature. The disease is more commonly seen in females and majority of the cases have presented as bilateral parotid gland swellings. This case presenting in a 21-year-old male is the first of this unusual entity involving solely the minor salivary gland on the lower lip. This case report highlights the importance for the clinician to be aware of this differential diagnosis, when treating an innocuous lesion like a mucocele.

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