scholarly journals Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Bone Age ◽  
Chromosome 7 ◽  
Facial Features ◽  
Mild Mental Retardation ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Case Presentations ◽  
Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

Case report of a Rare Cause of Portal Hypertension

2021 ◽  
Vol 3 (6) ◽  
pp. 01-03
Author(s):  
Mra Aye
Keyword(s):  
Nervous System ◽  
Case Report ◽  
Portal Hypertension ◽  
Genetic Architecture ◽  
Developmental Disorder ◽  
Chromosome 7 ◽  
Morbidity And Mortality ◽  
Facial Features ◽  
System Involvement ◽  
William Syndrome

Williams or Williams-Beuren (WBS) is a developmental disorder with multisystemic manifestations. Chromosome 7 microdeletion underlying WBS occurs because of the unique genetic architecture in this region. Facial features change from subtle to dramatic. The extent of mental and development problems is variable. Cardiovascular, endocrine, and nervous system involvement mostly affect the morbidity and mortality. Although many systems are involved in this syndrome, portal hypertension and splenomegaly are scarcely reported. We report a case of William syndrome with moderate splenomegaly and portal hypertension.

scholarly journals GM1 gangliosidosis: Case report

2010 ◽  
Vol 63 (5-6) ◽  
pp. 427-430
Author(s):  
Slobodan Obradovic ◽  
Olivera Laban ◽  
Zoran Igrutinovic ◽  
Biljana Vuletic ◽  
Ana Vujic ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Manifestations ◽  
Lysosomal Storage Disorders ◽  
Facial Features ◽  
Lysosomal Storage ◽  
Nasal Bridge ◽  
Gm1 Gangliosidosis ◽  
Decerebrate Rigidity ◽  
Depressed Nasal Bridge ◽  
Storage Disorders

Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions. Case report. We present a patient with an early, infintile type of GM1 gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with amimic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. Conclusion. The absence of ?-galaktosidase enzyme activaty at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.

scholarly journals RUBINSTEIN – TAYBI IN SYNDROME A PERUVIAN PATIENT WITH MILD MENTAL RETARDATION: A CASE REPORT / SÍNDROME DE RUBINSTEIN - TAYBI EM UM PACIENTE PERUANO COM LEVE RETARDO MENTAL: UM RELATO DE CASO

2020 ◽  
Vol 6 (8) ◽  
pp. 63905-63914
Author(s):  
Pedro Teixeira Meireles ◽  
Mateus Borges Soares ◽  
Diego Rodrigues Naves Barbosa Lacerda ◽  
Bruno Belmonte Martineli Gomes ◽  
Eduardo Elias Vieira de Carvalho ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Mild Mental Retardation

A case report of seckel syndrome

2018 ◽  
Vol 10 (2) ◽  
pp. 39-42
Author(s):  
Chaitanya R Uppin
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Birth Weight ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Narrow Face ◽  
Seckel Syndrome ◽  
Small Head ◽  
Autosomal Recessive Pattern

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000) genetically heterogeneous autosomal recessive disorder presenting at birth. Seckel described the disease on the basis of two cases he had studied in Chicago as well as 13 cases on nanocephalic dwarfs reported in the literature over a 200-year period. It is Characterized by dwarfism prenatally resulting in low birth weight, abnormally small head with a “bird‑headed” like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia) and mental retardation. Other facial features include abnormally large eyes and narrow face. This syndrome has an autosomal recessive pattern of inheritance. A case of Seckel syndrome that was reported is described in this article.

Postictal psychosis and aripiprazole treatment in an adolescent with epilepsy and mild mental retardation: Case report

2014 ◽  
Vol 15 ◽  
pp. 1
Author(s):  
Serkan Karadeniz ◽  
Mutlu Karakus ◽  
Busra Duran ◽  
Canan Ince ◽  
Sema Kandil
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Mild Mental Retardation

scholarly journals A rare case of combined immunodeficiency due to a deletion of 11(q) – Jacobsen syndrome

2020 ◽  
Vol 19 (3) ◽  
pp. 114-120
Author(s):  
N. B. Kuzmenko ◽  
O. A. Shvets ◽  
A. A. Mukhina
Keyword(s):  
Clinical Phenotype ◽  
Psychomotor Retardation ◽  
Physical Growth ◽  
Facial Dysmorphism ◽  
Combined Immunodeficiency ◽  
Chromosome 11 ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Broad Nasal Bridge

Jacobsen syndrome (JS) is a rare combined immunodeficiency caused by partial deletion of the long arm of chromosome 11. Clinical features include physical growth retardation, psychomotor retardation, characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small low set ears). Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Abnormal platelet function and immunological problems are usually present. Here we describe a patient with deletion of 11(q) chromosome resulting in clinical phenotype of the facial dysmorphisms, congenital malformations, neurological symptoms, as well as clinical and laboratory features of immunodeficiency. Features of immune dysregulation in a patient with JS are clearly characterized. Patient's parents agreed to use personal dats and photos in research and publications.

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