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Cancer plans should consider local needs
(Elsevier BV, 2025-02)
Bettina Müller
;
Raul Murillo
1Scopus© Citations 2
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Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community
(2024)
Ricardo Fernández-Ramires
;
Sebastián Morales-Pison
;
Guilherme Gischkow Rucatti
;
César Echeverría
;
Esteban San Martín
Scopus© Citations 1
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Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion
(2024)
Abraham Urzua
;
Sofía Catena
;
Paulina Morales
;
Guillermo Lay-Son
<jats:p>Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features resulting from a complex rearrangement of chromosome 11 inherited from his mother. We studied the index case with karyotyping, MS-MLPA and molecular karyotyping. The mother was studied with karyotyping and subtelomeric FISH. We found a child with marked developmental delay and fatal outcome due to failure to thrive, carrying an 11p15 duplication and an 11q25 deletion of maternal origin. We discovered that the mother was a carrier of a pericentric inversion of chromosome 11, with a history of recurrence in other family members who had severe growth retardation and early death. To our knowledge, no similar SRS-like cases have been described in the literature. This report supports the importance of identification the causative genetic mechanism in SRS-like individuals with duplication in 11p15 region due to high risk of recurrence and to provide an appropriate genetic counseling to the family.</jats:p>
1
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Establishing a Program for Individuals at High Risk for Breast Cancer
(2013)
Fernando Cadiz
;
Henry M. Kuerer
;
Julio Puga
;
Jamile Camacho
;
Eduardo Cunill
4Scopus© Citations 17
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Medical Genetics and Genetic Counseling in Chile
(2013)
Sonia B. Margarit
;
Mónica Alvarado
;
Karin Alvarez
;
Guillermo Lay‐Son
<jats:title>Abstract</jats:title><jats:p>In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.</jats:p>
Scopus© Citations 18 1
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<i>PUF60</i>‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic <i>PUF60</i> variants
(2023)
H. Grimes
;
M. Ansari
;
T. Ashraf
;
Anna Mª. Cueto‐González
;
A. Calder
<jats:title>Abstract</jats:title><jats:p><jats:italic>PUF60</jats:italic>‐related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of <jats:italic>PUF60</jats:italic>, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with <jats:italic>PUF60</jats:italic>‐related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with <jats:italic>PUF60</jats:italic> gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel <jats:italic>PUF60</jats:italic> variants. The addition of a further patient with a reported c449‐457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in <jats:italic>PUF60</jats:italic>‐related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in <jats:italic>PUF60</jats:italic>‐related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with <jats:italic>PUF60</jats:italic>‐related developmental disorder which has important genetic counseling implications for families.</jats:p>
Scopus© Citations 5 1
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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
(2023)
Erik Boot
;
Sólveig Óskarsdóttir
;
Joanne C.Y. Loo
;
Terrence Blaine Crowley
;
Ani Orchanian-Cheff
Scopus© Citations 76 2
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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
(2023)
Sólveig Óskarsdóttir
;
Erik Boot
;
Terrence Blaine Crowley
;
Joanne C.Y. Loo
;
Jill M. Arganbright
Scopus© Citations 50 2
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Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
(2022)
Katrine M. Johannesen
;
Sumaiya Iqbal
;
Milena Guazzi
;
Nazanin A. Mohammadi
;
PEREZ PALMA, EDUARDO ESTEBAN
Scopus© Citations 16 2
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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies:
<scp>CANDLE</scp>
/
<scp>PRAAS</scp>
,
<scp>SAVI</scp>
, and
<scp>AGS</scp>
(2022)
Kader Cetin Gedik
;
Lovro Lamot
;
Micol Romano
;
Erkan Demirkaya
;
David Piskin
Scopus© Citations 36 1

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