Recurrent spontaneous intracranial hemorrhage in a patient with Jacobsen syndrome

2020 ◽  
pp. 10.1212/CPJ.0000000000000963
Author(s):  
Neil Suryadevara ◽  
Rashid Ahmed ◽  
Ahmed El Dokla
Keyword(s):  
Heart Defects ◽  
Terminal Deletion ◽  
Upper Lip ◽  
Platelet Dysfunction ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Spontaneous Intracranial Hemorrhage ◽  
Neonatal Thrombocytopenia ◽  
Broad Nasal Bridge ◽  
I Gene

Jacobsen syndrome (JS) is an 11q terminal deletion disorder. Affected individuals have developmental delay, cognitive impairment, heart defects, hypertelorism, broad nasal bridge, and a thin upper lip. Most patients with JS have Paris-Trousseau syndrome (PTS), which is characterized by neonatal thrombocytopenia and persistent platelet dysfunction due to 11q terminal deletion including FLI-I gene causing platelet alpha-granule abnormalities.1

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.

Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24-26)

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5) ◽  
pp. 756-761
Author(s):  
Humberto Moreno-Fuenmayor ◽  
Elaine H. Zackai ◽  
William J. Mellman ◽  
Margaret Aronson
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Upper Lip ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Hands And Feet

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, —17, +t (17p; lOq) are described. From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we propose that the trisomy 1Oq 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthamia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 1Oq, are believed to be expressions of a partial monosomy of 17p.

scholarly journals The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

2015 ◽  
Vol 35 (8) ◽  
pp. 761-768 ◽  
Author(s):  
Virgil A. S. H. Dalm ◽  
Gertjan J. A. Driessen ◽  
Barbara H. Barendregt ◽  
Petrus M. van Hagen ◽  
Mirjam van der Burg
Keyword(s):  
Primary Immunodeficiency ◽  
Terminal Deletion ◽  
Jacobsen Syndrome

Deletion ofJAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice

2009 ◽  
Vol 149A (7) ◽  
pp. 1438-1443 ◽  
Author(s):  
Maoqing Ye ◽  
Rabih Hamzeh ◽  
Amy Geddis ◽  
Nissi Varki ◽  
M. Benjamin Perryman ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Heart Defects ◽  
Jacobsen Syndrome ◽  
Cardiac Phenotype

The Circles of Prominence, A New Theory on Beauty

2016 ◽  
Vol 33 (4) ◽  
pp. 165-175 ◽  
Author(s):  
Philip A. Young
Keyword(s):  
Upper Lip ◽  
Eyelid Margin ◽  
Nasal Bridge ◽  
Lower Lip ◽  
Beauty Ideal ◽  
The Face ◽  
The Aesthetic ◽  
Aesthetic Ideal ◽  
The Ideal

The Circles of Prominence, A New Theory on Beauty: Ideal Distances in the Eyes, Nose, Ears and Lips. The Circles of Prominence (COP) theorizes that the width of the iris serves as an ideal for multiple distances and shapes within the face. We wanted to test if the iris width (IW) dictates: 1.) the aesthetic ideal distance between eyelid margin and bottom of the eyebrow; 2.) the aesthetic ideal width of the nasal bridge and tip; 3.) the aesthetic ideal height of the upper lip; 4.) the aesthetic ideal height of the lower lip; 5.) and the aesthetic ideal distance the ear extends from the side of the face. This was a subjective survey to test these distances to find the ideal. The data supports that the ideal distance for eyebrow height, nasal bridge & tip width, and lower lip height are all 1 IW as predicted by the COP. The ideal height of the upper lip was statistically found to be ½ IW. The ideal distance that the ear extends from the side of the face was split between ½ IW and 1. As predicted, the data supports the idea that the Iris width serves as the ideal distance or shape for many elements in the face.

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.

A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype

2012 ◽  
Vol 158A (3) ◽  
pp. 680-684 ◽  
Author(s):  
Christina Evers ◽  
Johannes W. G. Janssen ◽  
Anna Jauch ◽  
Michael Bonin ◽  
Ute Moog
Keyword(s):  
Critical Region ◽  
Terminal Deletion ◽  
Jacobsen Syndrome
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