American Journal of Medical Genetics Part A: Vol 170, No 3

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American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 170, Issue 3

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American Journal of Medical Genetics Part A: Volume 170A, Number 3, March 2016

Issue Information-TOC

Table of Contents, Volume 170A, Number 3, March 2016

Issue Information-Publication Schedule

Publication schedule for 2016

the AJMG SEQUENCE: Decoding News and Trends for the Medical Genetics Community by Deborah Levenson

Debate surrounds state laws for down syndrome fact sheets: Controversy revolves around whether states are attempting to intrude too much in the communication between patients and providers

Noninvasive prenatal testing can detect gene deletions, duplications: Use of cell-free fetal DNA for NIPT promising but not yet ready for clinical use

Noninvasive prenatal testing spots duchenne muscular dystrophy

In this issue

Research Articles

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith–Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion

Generating a taxonomy for genetic conditions relevant to reproductive planning

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

Elevated plasma oxytocin levels in children with Prader–Willi syndrome compared with healthy unrelated siblings

Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates

Body proportions in children with Kabuki syndrome

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation

Rare copy number variants implicated in posterior urethral valves

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Sleep disturbance in Mowat–Wilson syndrome

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo–Cardio–Facial) syndrome

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

Clinical Reports

Clinical delineation of the PACS1-related syndrome—Report on 19 patients

Research Articles

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses

Clinical Reports

5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive

BRAT1-related disease—identification of a patient without early lethality

KIAA2022 nonsense mutation in a symptomatic female

Gershoni-Baruch syndrome: First report of a surviving child

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1

Massive hemoptysis in Loeys–Dietz syndrome

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review

Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome

Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation

Research Letters

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings

A new case of bent bone dysplasia—FGFR2 type and review of the literature

Hepatoblastoma in a male with MECP2 duplication syndrome

Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia

Depression and hyperactivity in two patients with craniofrontonasal syndrome

Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome

Phenotypes of 8q13.2–q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome

Book Review

Book review: Signs and symptoms of genetic conditions—A handbook by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme, Oxford University Press, 2014; i-540.

Correspondence

Thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation

Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation

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