American Journal of Medical Genetics Part C: Seminars in Medical Genetics American Journal of Medical Genetics Part C: Seminars in Medical Genetics RSS feedThis 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.

Developmental trajectories in 22q11.2 deletion syndrome
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,000–4,000 live births and involving haploinsufficiency of ∼50 genes resulting in a multisystem disorder. Phenotypic expression is highly variable and ranges from severe life‐threatening conditions to only a few associated features. Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies;...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2015 Category: Genetics & Stem Cells Authors: Ann Swillen, Donna McDonald‐McGinn Tags: Research Article Source Type: research

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader–Willi syndrome and Williams syndrome
The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader–Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavi...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2015 Category: Genetics & Stem Cells Authors: Lauren J. Rice, Kylie M. Gray, Patricia Howlin, John Taffe, Bruce J. Tonge, Stewart L. Einfeld Tags: Research Article Source Type: research

Developmental trajectories as autism phenotypes
This study uses quantitative methods to describe specific aspects of changes in autism‐related and more general behaviors in order to yield trajectories that could be used in place of single time‐point data as behavioral phenotypes in neurobiological studies of both Autism Spectrum Disorders and overlapping conditions. Building on previous analyses, we examined trajectories of parent‐reported social‐communication deficits, social adaptive functioning, and two types of repetitive behaviors, repetitive sensory motor (RSM) behaviors and insistence on sameness (IS) behaviors, in a relatively large sample of participant...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2015 Category: Genetics & Stem Cells Authors: Catherine Lord, Somer Bishop, Deborah Anderson Tags: Research Article Source Type: research

Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY
The objective of this follow‐up study was to examine the effects of EHT on social behavior in boys with 47, XXY. The study consisted of boys prenatally diagnosed with 47, XXY who were referred for evaluations. Twenty‐nine boys received three injections of 25 mg testosterone enanthate and 57 controls did not receive EHT. Behavioral functioning was assessed using the Behavior Rating Inventory of Executive Function, Social Responsiveness Scale, 2nd Ed., and the Child Behavior Checklist for Ages 6–18. The hypothesis that EHT may affect behavior was formulated prior to data collection. Questionnaire data was prospective...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2015 Category: Genetics & Stem Cells Authors: Carole Samango‐Sprouse, Emily J. Stapleton, Patrick Lawson, Francie Mitchell, Teresa Sadeghin, Sherida Powell, Andrea L. Gropman Tags: Research Article Source Type: research

Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: Update and perspectives
In the last decade, increasing attention has been devoted to the extra‐articular and extra‐cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers–Danlos syndrome, hypermobility type (i.e., JHS/EDS‐HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobilit...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 5, 2015 Category: Genetics & Stem Cells Authors: Giulia Ghibellini, Francesco Brancati, Marco Castori Tags: Research Article Source Type: research

Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain
Ehlers–Danlos syndrome (EDS) is an umbrella term for a growing group of hereditary disorders of the connective tissue mainly manifesting with generalized joint hypermobility, skin hyperextensibility, and vascular and internal organ fragility. In contrast with other well known heritable connective tissue disorders with severe cardiovascular involvement (e.g., Marfan syndrome), most EDS patients share a nearly normal life span, but are severely limited by disabling features, such as pain, fatigue and headache. In this work, pertinent literature is reviewed with focus on prevalence, features and possible pathogenic mechanis...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 5, 2015 Category: Genetics & Stem Cells Authors: Marco Castori, Silvia Morlino, Giulia Ghibellini, Claudia Celletti, Filippo Camerota, Paola Grammatico Tags: Research Article Source Type: research

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility type
We report on mucocutaneous findings in 277 patients with JHS/EDS‐HT with both sexes and various ages. Sixteen objective and five anamnestic items were selected and ascertained in two specialized outpatient clinics. Feature rates were compared by sex and age by a series of statistical tools. Data were also used for a multivariate correspondence analysis with the attempt to identify non‐causal associations of features depicting recognizable phenotypic clusters. Our findings identified a few differences between sexes and thus indicated an attenuated sexual dimorphism for mucocutaneous features in JHS/EDS‐HT. Ten feature...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2014 Category: Genetics & Stem Cells Authors: Marco Castori, Chiara Dordoni, Silvia Morlino, Isabella Sperduti, Marco Ritelli, Michele Valiante, Nicola Chiarelli, Arianna Zanca, Claudia Celletti, Marina Venturini, Filippo Camerota, Piergiacomo Calzavara‐Pinton, Paola Grammatico, Marina Colombi Tags: Research Article Source Type: research

Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome
The human X/autosome translocation, designated KOP, was discovered by Dr. Philip D. Pallister in Montana in 1967 in a young man with apparent Klinefelter syndrome. Collaboratively it was possible to elucidate the genetic nature of his unprecedented chromosome rearrangement and its developmental effects in mother and son. In retrospect, these clinical and genetic studies at the height of the somatic cell genetics era (Ruddle, Siniscalco, etc.) presented human genetics with a highly productive opportunity to begin gene mapping of autosomes and the X chromosome. The late Victor McKusick considered the discovery of the KOP tra...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 25, 2014 Category: Genetics & Stem Cells Authors: John M. Opitz Tags: Research Article Source Type: research

Pallister–Hall syndrome has gone the way of modern medical genetics
The Pallister–Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early 1980s. Subsequently, many patients were reported expanding the phenotype. Familial cases demonstrated variability and lead to linkage and then gene identification. Mutations in the responsible gene, GLI3 are also known to be involved in several other disorders. Genotype/phenotype correlations have led to fine mapping of GLI3 and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene. © 2014 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 25, 2014 Category: Genetics & Stem Cells Authors: Judith G. Hall Tags: Research Article Source Type: research

Introduction—A Pallister Jubilee
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 25, 2014 Category: Genetics & Stem Cells Authors: Ian D. Krantz, John M. Opitz Tags: Introduction Source Type: research

Pallister–Killian syndrome
(PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, congenital diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy. PKS is caused by extra copies of chromosome 12p, most characteristically a marker isochromosome 12p that demonstrates tissue‐limited mosaicism. The cytogenetic diagnosis of PKS is often cumbersome due to the absence of the isochromosome in lymphocytes requiring sampling of other tissues. The mechanism by which the isochromosome 12p results in the constellation of multiple congenital anomalies remains largely unknown. In this review, we...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 25, 2014 Category: Genetics & Stem Cells Authors: Kosuke Izumi, Ian D. Krantz Tags: Research Article Source Type: research

The Shodair Medical Genetics Department—Recent past and future developments
Philip Pallister and John Opitz laid the ground work for a unique genetic service model in Montana that continues to flourish through ongoing support by the Montana Legislature, the Montana Department of Public Health and Human Services and the Shodair Foundation. At the heart of the model are clinical and laboratory genetic specialists based at Shodair Children's Hospital in Helena providing genetic care for patients through outreach clinics. Clinical services are supported by a state‐of‐the‐art cytogenetics and molecular genetic laboratory as well a fetal genetic pathology program. Over the years, the reach of regu...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 25, 2014 Category: Genetics & Stem Cells Authors: Abdallah F. Elias Tags: Research Article Source Type: research

Mosaicism and clinical genetics
With the introduction of increasingly sensitive technologies for mutation detection such as chromosomal microarrays and next‐generation sequencing, the importance of mosaicism for human disease is being more fully appreciated. Mosaicism can occur for any type of mutation, either at the chromosomal or DNA sequence level, and while in many cases mosaicism can modify the clinical effects of a syndrome, there are many alterations that can only occur in mosaic form as the mutation is lethal when present in every cell. Mosaicism can have a wide range of effects, from early pregnancy loss, to organ specific pathology, to modifi...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 25, 2014 Category: Genetics & Stem Cells Authors: Nancy B. Spinner, Laura K. Conlin Tags: Research Article Source Type: research

The study of genetic syndromes in a rural setting
The syndromal and genetic biology reported and reviewed herein can be studied, analyzed and reported by any “GP” with the required gifts, enthusiasm, drive, and ability to work with collaborators of goodwill at University centers near or far; and most importantly, to continue lifelong education and retraining. Beginning individually in rural Boulder, MT in 1947 it was possible to train in phenotype analysis with methods available to any GP, somewhat later to enlist collaborators at the Universities of Wisconsin and Washington, and finally to establish a genetic services program at a regional medical center (Shodair Chi...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2014 Category: Genetics & Stem Cells Authors: Philip D. Pallister Tags: Research Article Source Type: research

Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing
This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI/SNF complex) genes, particularly focusing on Coffin–Siris syndrome (CSS). CSS is a rare congenital malformation syndrome characterized by developmental delay or intellectual disability (ID), coarse facial appearance, feeding difficulties, frequent infections, and hypoplasia/aplasia of the fifth fingernails and fifth distal phalanges. In 2012, 42 years after the first description of CSS in 1970, five causative genes (SMARCB1, SMARCE1...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 28, 2014 Category: Genetics & Stem Cells Authors: Tomoki Kosho, Noriko Miyake, John C. Carey Tags: Introduction Source Type: research