American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Cytogenetic highlights and transitions
Medical cytogenetics, genetic diagnostics, and medical genetics had their origins in the late 1950's, as evaluation of human chromosomes became possible, and it was recognized that chromosomal abnormalities could cause a variety of clinical phenotypes. Dr. Laird Jackson began his medical and scientific career just as this field was emerging and he was an early adopter and driver of several key trends in the development of these fields, notably in the area of prenatal diagnostics. Laird's greatest impact was in his work to demonstrate the clinical utility of amniocentesis, chorionic villous sampling, and chromosomal microar...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 19, 2016 Category: Genetics & Stem Cells Authors: Nancy B. Spinner Tags: Commentary Source Type: research

The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics
Discovery of genetic alterations that cause human birth defects provide key opportunities to improve the diagnosis, treatment, and family counseling. Frequently, however, these opportunities are limited by the lack of knowledge about the normal functions of the affected genes. In many cases, there is more information about the gene's orthologs in model organisms, including Drosophila melanogaster. Despite almost a billion years of evolutionary divergence, over three‐quarters of genes linked to human diseases have Drosophila homologs. With a short generation time, a twenty‐fold smaller genome, and unique genetic tools, ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 19, 2016 Category: Genetics & Stem Cells Authors: Dale Dorsett Tags: Research Review Source Type: research

Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features
This report describes a male child with a history of poor feeding and swallowing problems, hypotonia, mild bilateral sensorineural hearing loss, cerebral cortical agenesis, cardiac defects, cyanotic episodes triggered by specific movement, dysmorphic features, and developmental delays. Analysis by CytoScan HD array identified a 12.1 Mb interstitial deletion of 7q22.1q31.1 (98,779,628–110,868,171). We present a comprehensive review of the literature surrounding intermediate 7q deletions that overlap with this child's deletion, and an analysis of candidate genes in the deleted region. © 2016 Wiley Periodicals, Inc. (Sourc...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 19, 2016 Category: Genetics & Stem Cells Authors: Olivia L. Katz, Ian D. Krantz, Sarah E. Noon Tags: Research Article Source Type: research

Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients
This study is aimed to investigate the ocular findings in patients with Goltz syndrome. To date, there have been a limited number of case reports on the ocular manifestations of FDH. This is a prospective, non‐consecutive, observational case series. Prospective ophthalmologic evaluation was performed on 18 patients with confirmed genetic testing for FDH, Goltz Syndrome, as a component of a larger multi‐subspecialty study to better characterize the findings of this condition. Special attention was placed on evaluating the incidence of anophthalmia, microphthalmia, colobomas (iris, optic nerve, and/or retinal), cataracts...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 18, 2016 Category: Genetics & Stem Cells Authors: Jordan D. Gisseman, Honey H. Herce Tags: Research Article Source Type: research

Publication schedule for 2016
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 18, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐Publication Schedule Source Type: research

Table of Contents, Volume 172C, Number 1, March 2016
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 18, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐TOC Source Type: research

Cover Image, Volume 172C, Number 1, March 2016
The cover image, by V. Reid Sutton et al., is based on the Research Article Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals, DOI: 10.1002/ajmg.c.31473. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 18, 2016 Category: Genetics & Stem Cells Authors: Bret Bostwick, Ping Fang, Ankita Patel, V. Reid Sutton Tags: Cover Image Source Type: research

Confined placental mosaicism and its impact on confirmation of NIPT results
Non‐invasive prenatal testing (NIPT) has been widely used to screen for common aneuploidies since 2011. While NIPT is highly sensitive and specific, false positive results can occur. One important cause of false positive results is confined placental mosaicism (CPM). This can occur through a mitotic nondisjunction event or through aneuploidy rescue. CPM is usually associated with normal fetal outcomes, but has been associated with intrauterine growth restriction, pregnancy loss, or perinatal death in some cases. CPM may also be a marker for uniparental disomy. Given that NIPT can result in false positives, positive resul...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Anne Mardy, Ronald J. Wapner Tags: Commentary Source Type: research

From picnics in the park to board rooms in the United States and the world: Our journey with Dr. Jackson
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Julie A. Mairano, Lynn P. Audette Tags: Commentary Source Type: research

Special cases in Cornelia de Lange syndrome: The Spanish experience
Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X‐linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies. In 2005, the Spanish CdLS Reference Center was started and now we have more than 270 cases in our database. In this special issue, we describe some of the unique or atypical patients studied by our group, whose clinical features have contributed to the expansion of the CdLS classical phenotype, helping clinicians to diagnose it. We include the case of a male with unilateral tibial h...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Juan Pié, Beatriz Puisac, Maria Hernández‐Marcos, Maria Esperanza Teresa‐Rodrigo, Maria Gil‐Rodríguez, Carolina Baquero‐Montoya, Maria Ramos‐Cáceres, Maria Bernal, Ariadna Ayerza‐Casas, Inés Bueno, Paulino Gómez‐Puertas, Feliciano J. R Tags: Research Review Source Type: research

Dr. Laird G. Jackson Festschrift
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Sarah E. Noon, Matthew A. Deardorff, Ian D. Krantz Tags: Introduction Source Type: research

Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series
We report on a retrospective descriptive analysis of the anesthetic records of the CdLS patients admitted to San Gerardo Hospital from January 2010 to December 2015. We retrieved: demographics, genetic profiles, type of procedures, anesthetic approaches, anesthetics usage and complications. Data are reported as median (interquartile range) values. Twenty‐seven patients (11 female), with age 12 (7–15) years old, weight 24 (14–35) kg, and severity score of 25 (18–32) were included. NIBPL mutations were the most frequently represented. We analyzed 58 procedures (30 esophagogastroduodenoscopies, 8 evoked auditory poten...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Alessandra Moretto, Vittorio Scaravilli, Valentina Ciceri, Mariagrazia Bosatra, Federica Giannatelli, Bianca Ateniese, Milena Mariani, Anna Cereda, Simone Sosio, Alberto Zanella, Antonio Pesenti, Angelo Selicorni Tags: Research Article Source Type: research

Sleep disorders in Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in CdLS, but these have not been completely characterized, and prevalence data are conflicting. The aim of this paper is to characterize and determine the prevalence of sleep disorders in CdLS patients by means of a validated questionnaire. From November 2012 to November 2013, we asked 46 consecutive parents/caregivers of CdLS patients aged more than 3 years old to fill out the sle...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Elena Zambrelli, Chiara Fossati, Katherine Turner, Matteo Taiana, Aglaia Vignoli, Cristina Gervasini, Silvia Russo, Francesca Furia, Maura Masciadri, Paola Ajmone, Gaia Kullman, Maria Paola Canevini, Angelo Selicorni Tags: Research Article Source Type: research

Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion
We report herein on a male patient with a 5.5 Mb interstitial deletion of 10q26.11q2613 and compare his clinical presentation to previously reported cases. Apart from characteristic phenotypes seen in 10q26 deletion syndrome, he presents with colobomas and left ventricle enlargement. These are cardiovascular and ophthalmological findings that have not been described in prior cases. © 2016 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Maria Ramos, Alisha Wilkens, Ian D. Krantz, Yaning Wu Tags: Research Article Source Type: research

Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome
Cornelia de Lange Syndrome (CdLS) is characterized by a wide variety of structural and functional abnormalities in almost every organ system of the body. CdLS is now known to be caused by mutations that disrupt the function of the cohesin complex or its regulators, and studies of animal models and cell lines tell us that the effect of these mutations is to produce subtle yet pervasive dysregulation of gene expression. With many hundreds of mostly small gene expression changes occurring in every cell type and tissue, identifying the etiology of any particular birth defect is very challenging. Here we focus on limb abnormali...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Martha E. Lopez‐Burks, Rosaysela Santos, Shimako Kawauchi, Anne L. Calof, Arthur D. Lander Tags: Research Article Source Type: research