Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature

2019 ◽  
Vol 159 (3) ◽  
pp. 109-118
Author(s):  
Anastasios Xefteris ◽  
Eleni Sekerli ◽  
Antonia Arampatzi ◽  
Sofia Charisiou ◽  
Eirini Oikonomidou ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Prader Willi Syndrome ◽  
Review Of The Literature ◽  
Ear Malformations ◽  
Combination Of Methods ◽  
Atypical Feature ◽  
Severe Retardation ◽  
De Novo Translocation ◽  
Tendon Reflexes

In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, microcephaly, retrognathia, bifid uvula, ear malformations, and heart defects in addition to typical features of PWS. Our proband exhibited increased deep tendon reflexes, an atypical feature which is not reported in the reviewed literature. The severity of the phenotype is not directly associated with the size of the deletion; however, using a combination of methods, the identification of breakpoints and the deleted genes can be helpful for the prognostication in patients with atypical PWS deletions.

scholarly journals A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature

2019 ◽  
Vol 32 (9) ◽  
pp. 1027-1030 ◽  
Author(s):  
Odile Gaisl ◽  
Daniel Konrad ◽  
Pascal Joset ◽  
Mariarosaria Lang-Muritano
Keyword(s):  
Diaphragmatic Hernia ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Neonatal Diabetes ◽  
Short Review ◽  
Review Of The Literature ◽  
Mild Phenotype ◽  
Heart Defect

Abstract GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect. Congenital hypothyroidism, and hepatobiliary and gut abnormalities are also detectable. Children with congenital heart defects and neonatal diabetes were already described in 1970. GATA6 variants can be due to de novo variants or due to inherited variants. To date, 11 cases due to an inherited variant have been described. Herein we present a novel heterozygous GATA6 variant (c.1291C > T p.[Gln431*]) in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early-onset scoliosis. The same variant was also present in the mother. At the age of 3 years, a random evaluation revealed a hemoglobin A1c (HbA1c) level of 7.8% (62 mmol/mol) without any diabetes-related symptoms. He was started on insulin therapy and HbA1c normalized. A short review of the literature of hereditary cases of the GATA6 variant revealed the variable phenotypic spectrum and showed that patients with a mild phenotype are likely to have children with a more severe phenotype.

scholarly journals A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.

1994 ◽  
Vol 31 (6) ◽  
pp. 478-481 ◽  
Author(s):  
S Vickers ◽  
M Dahlitz ◽  
C Hardy ◽  
M Kilpatrick ◽  
T Webb
Keyword(s):  
De Novo ◽  
Prader Willi Syndrome ◽  
De Novo Translocation

Prader-Willi syndrome in a child with a balanced (X;15) de novo translocation

2008 ◽  
Vol 26 (3) ◽  
pp. 245-246 ◽  
Author(s):  
Karl-Henrik Gustavson ◽  
Göran Annerén ◽  
Sten Jagell
Keyword(s):  
De Novo ◽  
Prader Willi Syndrome ◽  
De Novo Translocation

scholarly journals Prenatal Sonographic Features of CHARGE Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 415
Author(s):  
Kuntharee Traisrisilp ◽  
Wisit Chankhunaphas ◽  
Rekwan Sittiwangkul ◽  
Chureerat Phokaew ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Acoustic Stimulation ◽  
Genetic Mutation ◽  
Suspected Case ◽  
Autosomal Dominant Disorder ◽  
Canal Stenosis

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

scholarly journals Prolonged Survival in Patients with Metastatic HER2-Positive Inflammatory Breast Cancer: A Case Report and Review of the Literature

2021 ◽  
pp. 1071-1079
Author(s):  
Jennifer Y. Ge ◽  
Beth Overmoyer
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Inflammatory Breast Cancer ◽  
Targeted Therapies ◽  
De Novo ◽  
Review Of The Literature ◽  
Her2 Positive ◽  
Rare Type ◽  
Favorable Prognosis ◽  
Poor Outcomes

Inflammatory breast cancer (IBC) is a rare type of breast cancer that is associated with poor outcomes compared with non-IBC. Overexpression of HER2 is enriched in IBC, and those with HER2-positive disease have a relatively favorable prognosis, with improved survival over the last two decades driven by the advent of novel targeted therapies. Here, we present two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC. We review the data for the treatments available for metastatic HER2-positive IBC and the evolving treatment recommendations for this disease.

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

2007 ◽  
Vol 143A (3) ◽  
pp. 265-270 ◽  
Author(s):  
Yuri A. Zarate ◽  
Jillene M. Kogan ◽  
Elizabeth K. Schorry ◽  
Teresa A. Smolarek ◽  
Robert J. Hopkin
Keyword(s):  
Normal Development ◽  
De Novo ◽  
Review Of The Literature

scholarly journals De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

2018 ◽  
Vol 137 (6-7) ◽  
pp. 459-470 ◽  
Author(s):  
Isabelle Schrauwen ◽  
Elina Kari ◽  
Jacob Mattox ◽  
Lorida Llaci ◽  
Joanna Smeeton ◽  
...  
Keyword(s):  
Inner Ear ◽  
De Novo ◽  
Inner Ear Malformations ◽  
Ear Malformations

scholarly journals B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature

2018 ◽  
Vol 28 (1) ◽  
pp. 53-56 ◽  
Author(s):  
QY Chen ◽  
XC Wang ◽  
WJ Wang ◽  
QH Zhou ◽  
DR Liu ◽  
...  
Keyword(s):  
B Cell ◽  
De Novo ◽  
Review Of The Literature ◽  
B Cell Deficiency
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