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.

Goltz syndrome and PORCN: A view from Europe
Goltz syndrome (focal dermal hypoplasia) is an X‐linked dominant, multisystem birth defect with lethality for male embryos. The hypoplastic skin lesions follow Blaschko's lines and often show herniation of subcutaneous fatty tissue. Extracutaneous defects mainly involve the brain, the bones, the teeth, and the eyes. All of these anomalies show a segmental arrangement reflecting functional X‐chromosome mosaicism. The present contribution tells the story how the molecular cause of Goltz syndrome was investigated and found by the group of the geneticist Karl–Heinz Grzeschik from Marburg, Germany. © 2016 Wiley Periodica...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Rudolf Happle Tags: Research Article Source Type: research

Epigenetics and child abuse: Modern‐day Darwinism — the miraculous ability of the human genome to adapt, and then adapt again
It has long been recognized that early adversity can have life‐long consequences, and the extent to which this is true is gaining increasing attention. A growing body of literature implicates Adverse Childhood Experiences, including physical, sexual, and emotional abuse, in a broad range of negative health consequences including adult psychopathology, cardiovascular, and immune disease. Increasing evidence from animal, clinical, and epidemiological studies highlight the critical role of epigenetic programing, such as DNA methylation and histone modification, in altering gene expression, brain structure and function, and ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 26, 2015 Category: Genetics & Stem Cells Authors: Naomi B. Gershon, Pamela C. High Tags: Research Article Source Type: research

The clinical geneticist and the evaluation of failure to thrive versus failure to feed
Common clinical genetic referrals for the pediatric patient include a single major or multiple minor anomalies, dysmorphic features, especially when accompanied by developmental delay or intellectual disability, and failure to thrive (FTT). This review provides pediatric definitions of FTT and the genetic differential for FTT, which includes chromosomal disorders, microdeletion/duplication syndromes, uniparental disomy/methylation disorder, disorders of DNA repair, teratogens, metabolic syndromes, and skeletal dysplasias. Three clinical genetics cases highlight challenges in deciphering the cause of FTT. The review conclud...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2015 Category: Genetics & Stem Cells Authors: Jillian Rabago, Kayt Marra, Nikki Allmendinger, Natasha Shur Tags: Research Article Source Type: research

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases
Non‐accidental injury (NAI) is a major medical concern in the United States. One of the challenges in evaluation of children with unexplained fractures is that genetic forms of bone fragility are one of the differential diagnoses. Infants who present with fractures with mild forms of osteogenesis imperfecta (OI) (OI type I or OI type IV), the most common genetic form of bone disease leading to fractures might be missed if clinical evaluation alone is used to make the diagnosis. Diagnostic clinical features (blue sclera, dentinogenesis imperfecta, Wormian bones on X‐rays or positive family history) may not be present or...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2015 Category: Genetics & Stem Cells Authors: Melanie G. Pepin, Peter H. Byers Tags: Research Article Source Type: research

Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood
This article presents the clinical, radiographic, and molecular profiles of the most common heritable disorders other than osteogenesis imperfecta with increased bone fragility. In addition, the clinicians must consider non‐heritable influences such as extreme prematurity, prenatal viral infection and neoplasia in the diagnostic process. © 2015 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 - September 1, 2015 Category: Genetics & Stem Cells Authors: Lucas M. Bronicki, Roger E. Stevenson, Jürgen W. Spranger Tags: Article Source Type: research

Genetic differentials of child abuse: Is your case rare or real?
The clinical geneticist can be called upon to play a role in the medical evaluation of children with clinical findings concerning for child abuse. This Introduction describes a case of suspected child abuse in an 8‐month‐old baby referred to clinical genetics to exclude osteogenesis imperfecta. The experience from this case raised medical and ethical considerations and prompted consideration of the role of the clinical geneticist in distinguishing rare mimics of child abuse from real cases. From this single case, and a discussion regarding similar cases, arose the idea of this issue in Seminars in Medical Genetics, Gen...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2015 Category: Genetics & Stem Cells Authors: Natasha Shur, John C. Carey Tags: Introduction Source Type: research

Common skin and bleeding disorders that can potentially masquerade as child abuse
Child abuse and neglect remains a major cause of morbidity and mortality among children worldwide. Over the last few decades, there has been growing research in the field of Child Abuse Pediatrics with greater recognition and research into potential diagnostic mimics of inflicted injury. This paper reviews some common skin findings and bleeding disorders that have features in common with child abuse. © 2015 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 - September 1, 2015 Category: Genetics & Stem Cells Authors: Bhavita Patel, Rebecca Butterfield Tags: Research Article Source Type: research

Clinical perspectives on osteogenesis imperfecta versus non‐accidental injury
Although non‐accidental injuries (NAI) are more common in cases of unexplained fractures than rare disorders such as osteogenesis imperfecta (OI), ruling out OI and other medical causes of fracture is always indicated. The majority of OI patients can be diagnosed with the help of family history, physical examination, and radiographic findings. In particular, there are a few radiological findings which are seen more commonly in NAI than in OI which may help guide clinician considerations regarding the probability of either of these diagnoses. At the same time, molecular testing still merits careful consideration in cases ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2015 Category: Genetics & Stem Cells Authors: Elaine Maria Pereira Tags: Research Article Source Type: research

Recognition and prevention of child abuse in the child with disability
Children with disabilities (CWD) are victims of abuse more frequently than children in the general population. The features of their underlying conditions make it more difficult to detect abuse and on occasion can be mistaken for abuse. Thus, the expertise of the clinical geneticist is often vital to properly identifying maltreatment in this vulnerable population. The purpose of this article is to review the magnitude of abuse in the population of CWD, to identify the aggravating factors, and to suggest practice changes in order to both diagnose and reduce the likelihood of abuse in CWD. © 2015 Wiley Periodicals, Inc. (So...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2015 Category: Genetics & Stem Cells Authors: Catherine Bearce Nowak Tags: Introduction Source Type: research

Genetic drift: A case of abuse
In this essay, an infant with multiple fractures is removed from the custody of her parents because of suspected child abuse. Subsequently studies reveal that the child has osteogenesis imperfecta, type III. Though the child is eventually returned to the mother's custody, her entire first year has been spent in foster care. The essay illustrates the toll taken on families when a diagnosis of OI is missed or delayed. © 2015 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 - September 1, 2015 Category: Genetics & Stem Cells Authors: Robert Marion Tags: Research Article Source Type: research

Ehlers–Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?
Ehlers–Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non‐ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers–Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers–Danlos syndrome with child abuse is a possibility, as occasionally reported in...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2015 Category: Genetics & Stem Cells Authors: Marco Castori Tags: Research Article Source Type: research

Making chromosome abnormalities treatable conditions
Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p‐, 5p‐, 11q‐, 18p‐, and 18q‐). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now o...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 3, 2015 Category: Genetics & Stem Cells Authors: Jannine DeMars Cody, Daniel Esten Hale Tags: Introduction Source Type: research

5p deletions: Current knowledge and future directions
This report reviews 5p− disorders and their molecular basis. Hemizygosity for genes located within this region have been implicated in contributing to the phenotype. A review of the genes on 5p which may be dosage sensitive is summarized. Because of the growing knowledge of these specific genes, future directions to explore potential targeted therapies for individuals with 5p− are discussed. © 2015 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 - August 3, 2015 Category: Genetics & Stem Cells Authors: Joanne M. Nguyen, Krista J. Qualmann, Rebecca Okashah, AmySue Reilly, Mikhail F. Alexeyev, Dennis J. Campbell Tags: Research Article Source Type: research

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype
In 1973, the Danish geneticist Petrea Jacobsen described a three‐generation family in which the proband carried a presumed terminal deletion at the end of the long arm of chromosome 11 (11q). This patient had dysmorphic features, congenital heart disease, and intellectual disability. Since Dr. Jacobsen's initial report, over 200 patients with Jacobsen syndrome have been reported, suggesting that Jacobsen syndrome is a contiguous gene disorder. With the advent of high resolution deletion mapping and the completion of the human genome sequencing project, a comprehensive genotype/phenotype analysis for Jacobsen syndrome bec...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2015 Category: Genetics & Stem Cells Authors: Remi Favier, Natacha Akshoomoff, Sarah Mattson, Paul Grossfeld Tags: Research Article Source Type: research

A review of 18p deletions
Since 18p‐ was first described in 1963, much progress has been made in our understanding of this classic deletion condition. We have been able to establish a fairly complete picture of the phenotype when the deletion breakpoint occurs at the centromere, and we are working to establish the phenotypic effects when each gene on 18p is hemizygous. Our aim is to provide genotype‐specific anticipatory guidance and recommendations to families with an 18p‐ diagnosis. In addition, establishing the molecular underpinnings of the condition will potentially suggest targets for molecular treatments. Thus, the next step is to esta...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2015 Category: Genetics & Stem Cells Authors: Minire Hasi‐Zogaj, Courtney Sebold, Patricia Heard, Erika Carter, Bridgette Soileau, Annice Hill, David Rupert, Brian Perry, Sidney Atkinson, Louise O'Donnell, Jon Gelfond, Jack Lancaster, Peter T. Fox, Daniel E. Hale, Jannine D. Cody Tags: Research Article Source Type: research