Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature

2017 ◽  
Vol 153 (2) ◽  
pp. 81-85 ◽  
Author(s):  
Andréa C.M. Malinverni ◽  
Érika M. Yamashiro Coelho ◽  
Kelin Chen ◽  
Mileny E. Colovati ◽  
Mirlene C. Soares Pinho Cernach ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Manifestation ◽  
Great Variability ◽  
Review Of The Literature ◽  
Partial Monosomy ◽  
Dysmorphic Features ◽  
Large Size ◽  
Monosomy 21

Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.

scholarly journals Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay

Gene ◽  
2013 ◽  
Vol 513 (2) ◽  
pp. 301-304 ◽  
Author(s):  
Ana Paula dos Santos ◽  
Társis Paiva Vieira ◽  
Milena Simioni ◽  
Fabíola Paoli Monteiro ◽  
Vera Lúcia Gil-da-Silva-Lopes
Keyword(s):  
Developmental Delay ◽  
Unbalanced Translocation ◽  
Partial Monosomy ◽  
Dysmorphic Features ◽  
Monosomy 21

Clinical Features, Natural History and Outcomes of Intraneural Perineuriomas: A Systematic Review of the Literature

2021 ◽  
Author(s):  
Karina A. Lenartowicz ◽  
Anshit Goyal ◽  
Michelle L. Mauermann ◽  
Thomas J. Wilson ◽  
Robert J. Spinner
Keyword(s):  
Systematic Review ◽  
Natural History ◽  
Clinical Features ◽  
Review Of The Literature

Testicular Extramedullary Myeloid Cell Tumor: Report of a Case With Unique Clinicopathologic Features and a Brief Review of the Literature

2004 ◽  
Vol 128 (3) ◽  
pp. 332-334 ◽  
Author(s):  
Ajay Rawal ◽  
Thomas C. Keeler ◽  
Michelangelo A. Milano
Keyword(s):  
Clinical Features ◽  
Myeloid Cell ◽  
Cell Tumor ◽  
Seminiferous Tubules ◽  
Clinicopathologic Features ◽  
Review Of The Literature ◽  
Pathologic Examination ◽  
Tumor Mass ◽  
Well Differentiated ◽  
Tumor Infiltrate

Abstract We report a case of testicular extramedullary myeloid cell tumor in a 37-year-old man who presented with an acute testicular hemorrhage. A pathologic examination revealed no gross tumor mass. A well-differentiated extramedullary myeloid cell tumor infiltrate was seen histologically, localized largely to the seminiferous tubules. The patient had no evidence of any past or concurrent myeloid disorders. The lack of the usual clinical features of a testicular mass and the presence of an intratubular pattern of infiltration can further compound the challenges in diagnosing this entity.

Salmonella Infection Presenting as Hematochezia on the First Day of Life

PEDIATRICS ◽  
1994 ◽  
Vol 94 (5) ◽  
pp. 739-741
Author(s):  
Rakesh S. Chhabra ◽  
Joy H. Glaser
Keyword(s):  
Disease Control ◽  
Clinical Manifestation ◽  
Review Of The Literature ◽  
Salmonella Infection ◽  
Salmonella Infections ◽  
Young Infants ◽  
Control And Prevention ◽  
Centers For Disease Control ◽  
Bloody Stools ◽  
Infectious Etiology

Salmonella infections are common in young infants. The incidence in the first month of life is estimated by the Centers for Disease Control and Prevention to be approximately 75 per 100 000 liveborn infants.1 Symptomatic neonatal Salmonella infections generally develop during or after the first week of life. We recently cared for two otherwise healthy newborns who developed bloody stools within 24 hours of birth as the clinical manifestation of a Salmonella infection. These two cases and a review of the literature describing six similar patients are presented to highlight the infectious etiology for hematochezia on the first day of life.

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 Performance of Acerola, Malpighia punicifolia L., in the Coffee Region of Puerto Rico

1969 ◽  
Vol 46 (3) ◽  
pp. 195-204
Author(s):  
Tara Singh-Dhaliwal ◽  
Aníbal Torres-Sepúlveda
Keyword(s):  
Puerto Rico ◽  
Vitamin C ◽  
Cultural Practices ◽  
Insect Pests ◽  
Average Diameter ◽  
Great Variability ◽  
Fruit Yield ◽  
Large Size ◽  
Lateral Branches ◽  
Lower Vitamin

The performance of acerola (Malpighia punicifolia L.) was studied for 7 years at Castañer, located in the centre of the Coffee Region of Puerto Rico. The acerola plants were raised from seed of clone B-17. They were planted in the field in an Alonso clay soil with a pH of about 5.0. To avoid soil erosion the planting was not cultivated. However, the other cultural practices such as cutting of weeds, application of fertilizer, and so on were properly attended. The acerola trees showed great variability as to height, diameter of canopy, number and thickness of scaffold limbs, length of primary lateral branches, and number of spurs. The acerola trees started bearing well when about 3 years old. The crop was harvested from April to November, with peak production in August. The acerola trees showed great variability as to fruit yield. Over a 3-year period their average annual fruit yield varied from 205.2 to 481.1 ounces. The trees also showed great variability as to the average diameter and weight of their fruits. However, the diameter and weight of fruits harvested from the same tree on different dates did not vary much. The acerola trees displayed great variability as to vitamin C contents of their fruits. Fully ripe fruits generally had lower vitamin C contents than the partly ripe fruits from the same tree. The acerola fruits were utilized for preparing juice and jelly on a home scale. Many persons liked to eat fruits fresh, especially those of large size and lower acidity. There was no serious incidence of diseases and insect pests in the acerola planting. The present study indicates that acerola can be commercially grown in the Coffee Region of Puerto Rico, provided the fruits can be sold to some canning or other processing concern.

scholarly journals Case Report: Bilateral mandibular buccal bifurcation cysts

F1000Research ◽  
2021 ◽  
Vol 9 ◽  
pp. 1502
Author(s):  
Ashwag Aloyouny ◽  
Hamad Albagieh ◽  
Soad Mansour ◽  
Fahmy Mobarak
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
English Language ◽  
Accurate Diagnosis ◽  
Odontogenic Cyst ◽  
Optimal Management ◽  
Review Of The Literature

Buccal bifurcation cyst (BBC) is a rare inflammatory odontogenic cyst, which commonly affects children in the first decade of life. We report a case of a seven-year-old healthy boy with bilateral BBC, which involved unerupted incomplete permanent mandibular first molars. A review of the literature in English language revealed few similar cases. We reviewed 16 manuscripts of bilateral mandibular BBC, reporting a total of 20 cases since 1970. The clinical features of bilateral mandibular BBC summarized here could assist specialists with an accurate diagnosis and provide patients with optimal management.

scholarly journals TRENDS OF CONTEMPORARY LEPTOSPIROSIS (REVIEW OF LITERATURE)

2018 ◽  
Vol 23 (2) ◽  
pp. 93-100
Author(s):  
Vladimir N. Gorodin ◽  
D. L. Moysova ◽  
V. A. Bakhtina ◽  
S. V. Zotov
Keyword(s):  
Organ Dysfunction ◽  
Clinical Features ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
Disease Complex ◽  
Modern Information ◽  
Clinically Significant

A review of the literature is devoted to one of the most common and clinically significant zoonoses - leptospirosis. The article summarizes modern information on prevalence, epidemiology, etiopathogenesis and clinical features, diagnosis of leptospirosis infection over the last 10 years. The particular attention is paid to the characterization of severe forms of the disease, complex approaches to the treatment of the disease, correction of organ dysfunction and hemostasis disorders; review.

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