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.

Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18
In conclusion, the goals of parents of children with trisomy 13 or 18 were to meet their child, be discharged home and be a family. Having a postnatal diagnosis was the independent factor most associated with these goals. Children with a postnatal diagnosis were treated “as any other children” until the diagnosis, which may give them a survival advantage, independent of palliative care. Rigorous transparency regarding specific interventions and outcomes may help personalize care for these children. © 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 - May 31, 2016 Category: Genetics & Stem Cells Authors: Annie Janvier, Barbara Farlow, Keith J. Barrington Tags: Research Article Source Type: research

Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25 ‐year, single‐center review
In conclusion, there was an increasing rate of procedures per patient of all intensity levels over the 25‐year study period. Given differences in characteristics in those with trisomies 13 and 18, and effects of intervention on survival, an individualized approach to care of these patients should be employed by parents and healthcare providers, using factors such as trisomy type, infant gender, co‐morbidities, and parental preference. © 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 - May 31, 2016 Category: Genetics & Stem Cells Authors: Justin B. Josephsen, Eric S. Armbrecht, Stephen R. Braddock, Catherine C. Cibulskis Tags: Research Article Source Type: research

Medical interventions and survival by gender of children with trisomy 18
This study examined 82 children with full trisomy 18 drawn from the Tracking Rare Incidence Syndromes (TRIS) project database. Children were classified into three groups according to the highest intervention received: “hospice or no intervention” (n = 5, 6.1%), “necessary interventions (enteral feeding, ventilator use)” (n = 46, 56.1%), and “aggressive interventions (surgery)” (n = 31, 37.8%). Seven of 14 male children (50%) and 52 of 68 female children (76.5%) were living at the time of survey completion. Additionally, information about any interventions used during the care of these children was a...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 31, 2016 Category: Genetics & Stem Cells Authors: Jennifer H. Donovan, Genomary Krigbaum, Deborah A. Bruns Tags: Research Article Source Type: research

Trisomy 13 and 18: Selecting the road previously not taken
The care of patients with trisomy 13 and 18 is a source of significant controversy. While these conditions are life limiting, indisputable data refutes the notion that these conditions are lethal or incompatible with life. Despite such evidence, arguments of beneficence, quality of life and limited resources are invoked to make the case to limit care to trisomy children. Lessons learned in our ignominious history with Down syndrome should guide us as we explore care for patients with trisomy 13 and 18. As clinicians we should strive with equipoise to carefully examine available data, the current status of practices related...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 31, 2016 Category: Genetics & Stem Cells Authors: Martin J. McCaffrey Tags: Commentary Source Type: research

A tumor profile in Edwards syndrome (trisomy 18)
In conclusion, knowledge of the Edwards’ syndrome tumor profile will enable better clinical surveillance in at‐risk organs (i.e., liver, kidney). This knowledge also provides clues to understanding oncogenesis, including the probably reduced frequency of some neoplasms in infants and children with this genetic condition. © 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 - May 31, 2016 Category: Genetics & Stem Cells Authors: Daniel Satg é, Motoi Nishi, Nicolas Sirvent, Michel Vekemans Tags: Research Article Source Type: research

When Overgrowth Bumps Into Cancer: The PTEN ‐Opathies
Abstract PTEN is a dual‐specificity phosphatase and well‐known tumor suppressor gene. When functioning properly, it works in its canonical pathway to inhibit AKT/mTOR and MAPK signaling, leading to cell death and growth regulation. PTEN mutations cause dysregulation of these pathways, resulting in cellular proliferation and overgrowth. When germline mutations are present as in patients with PTEN Hamartoma Tumor Syndrome (PHTS), benign and malignant neoplasias occur as well as cerebral overgrowth and neurodevelopmental abnormalities. This review article will summarize recent laboratory and clinical investigations relati...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 31, 2016 Category: Genetics & Stem Cells Authors: JESSICA MESTER, CHARIS ENG Tags: Research Article Source Type: research

Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome
There is an abundance of information in the literature on patient experiences with Internet support groups (ISGs). However, studies exploring these experiences in a rare disease population are scarce, even though these families are often at a disadvantage for resources, reliable information, and support. The aim of the current study was to explore the experiences with ISGs for parents of children with Cornelia de Lange syndrome (CdLS), a rare genetic diagnosis, in order to better understand the impact on emotional support and their child's medical care. Focus groups were conducted to inform the design of a large‐scale in...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 9, 2016 Category: Genetics & Stem Cells Authors: Cara N. Cacioppo, Laura J. Conway, Devanshi Mehta, Ian D. Krantz, Sarah E. Noon Tags: Research Article Source Type: research

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment
In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all bu...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 9, 2016 Category: Genetics & Stem Cells Authors: Tamanna R. Roshan Lal, Mark A. Kliewer, Thelma Lopes, Susan L. Rebsamen, Julia O'Connor, Marco A. Grados, Amy Kimball, Julia Clemens, Antonie D. Kline Tags: Research Article Source Type: research

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients
We report on our experience on 73 Italian CdLS patients (40 males and 33 females) with and age range from 15 to 49 years. Our results confirm the previous study indicating that gastroesophageal reflux disease (GERD) is the main medical problem of these patients in childhood and young‐adult age. Other medical features that should be considered in the medical follow‐up are tendency to overweight/frank obesity, constipation, discrepancy of limbs’ length, epilepsy, hearing, and visual problems. Behavioral problems are particularly frequent as well. For this reason, every source of hidden pain should be actively searched ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 9, 2016 Category: Genetics & Stem Cells Authors: Milena Mariani, Valentina Decimi, Laura Rachele Bettini, Silvia Maitz, Cristina Gervasini, Maura Masciadri, Paola Ajmone, Gaia Kullman, Marco Dinelli, Roberto Panceri, Anna Cereda, Angelo Selicorni Tags: Introduction Source Type: research

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome
Cornelia de Lange syndrome is a well‐known multiple congenital anomalies/intellectual disability syndrome with genetic heterogeneity and wide clinical variability, regarding the severity of both the intellectual disabilities and the physical features, not completely explained by the genotype‐phenotype correlations known to date. The aim of the study was the identification of prognostic features, ascertainable precociously in the patient's life, of a better intellectual outcome and the development of a new prognostic index of severity of intellectual disability in CdLS patients. In 66 italian CdLS patients aged 8 years ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 4, 2016 Category: Genetics & Stem Cells Authors: Anna Cereda, Milena Mariani, Paola Rebora, Anna Sajeva, Paola Francesca Ajmone, Cristina Gervasini, Silvia Russo, Gaia Kullmann, Grazia Valsecchi, Angelo Selicorni Tags: Research Article Source Type: research

Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses
Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care. This research aims to better understand the benefits an...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 3, 2016 Category: Genetics & Stem Cells Authors: Kathleen January, Laura J. Conway, Matthew Deardorff, Ann Harrington, Ian D. Krantz, Kathleen Loomes, Mary Pipan, Sarah E. Noon Tags: Research Review Source Type: research

Using fetal cells for prenatal diagnosis: History and recent progress
The potential to use fetal cells in the mother's circulation during the first or second trimester for prenatal diagnosis was described in 1968, but it has not been possible do develop a routine clinical prenatal test despite extensive commercial and academic research efforts. Early attention focused on the detection of aneuploidy, but more recent technology opens the possibility of high resolution detection of copy number abnormalities and even whole genome or exome sequencing to detect both inherited and de novo mutations. In the interim, cell‐free noninvasive prenatal testing NIPT has allowed improved detection of aneu...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 1, 2016 Category: Genetics & Stem Cells Authors: Arthur L. Beaudet Tags: Research Review Source Type: research

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity
Cornelia de Lange syndrome (CdLS) is a rare, genetically heterogeneous multisystem developmental disorder with a high degree of variability in its clinical presentation. Approximately 65% of probands harbor mutations in genes that encode core components (SMC1A, SMC3, and RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex, of which mutations in NIPBL are the most common. Cohesin plays a canonical role in sister chromatid cohesion during cell division and non‐canonical roles in DNA repair, stem cell maintenance and differentiation, and regulation of gene expression. Disruption of the latter role seems to be the maj...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 28, 2016 Category: Genetics & Stem Cells Authors: Maninder Kaur, Devanshi Mehta, Sarah E. Noon, Matthew A. Deardorff, Zhe Zhang, Ian D. Krantz Tags: Research Article Source Type: research

Characterization of limb differences in children with Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) is a well‐described multisystem developmental disorder characterized by dysmorphic facial features, growth and behavioral deficits, and cardiac, gastrointestinal, and limb anomalies. The limb defects seen in CdLS can be mild, with small feet or hands only, or can be severe, with variable deficiency defects involving primarily the ulnar structures and ranging from mild hypoplasia of the fifth digit to complete absence of the forearm. Interestingly, the upper limbs are typically much more involved than the lower extremities that generally manifest with small feet and 2–3 syndactyly of th...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 26, 2016 Category: Genetics & Stem Cells Authors: Devanshi Mehta, Samantha A. Schrier Vergano, Matthew Deardorff, Sarika Aggarwal, Akash Barot, Drew M. Johnson, Nathan F. Miller, Sarah E. Noon, Maninder Kaur, Laird Jackson, Ian D. Krantz Tags: Research Article Source Type: research

Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome
Cornelia de Lange Syndrome (CdLS) is a multisystem birth defects disorder that affects every tissue and organ system in the body. Understanding the factors that contribute to the origins, prevalence, and severity of these developmental defects provides the most direct approach for developing screens and potential treatments for individuals with CdLS. Since the majority of cases of CdLS are caused by haploinsufficiency for NIPBL (Nipped‐B‐like, which encodes a cohesin‐associated protein), we have developed mouse and zebrafish models of CdLS by using molecular genetic tools to create Nipbl‐deficient mice and zebrafis...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 26, 2016 Category: Genetics & Stem Cells Authors: Shimako Kawauchi, Rosaysela Santos, Akihiko Muto, Martha E. Lopez‐Burks, Thomas F. Schilling, Arthur D. Lander, Anne L. Calof Tags: Research Article Source Type: research