Aspect of faulty brain development in 22q11 deletion syndrome shown
Genetic defects behind fragile X-related disorders more common
In this issue
New therapies for treating Down syndrome require quality of life measurement
Changes in mortality and causes of death in the Swedish Down syndrome population
Hospitalizations among people with Down syndrome: A nationwide population-based study in Denmark
Progressive disorders and associated complications
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge
Neurofibromatosis type 2 in the elderly population: Clinical and molecular features
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy
Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy
Epilepsy in children with trisomy 18
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: A case control study of genetic factors
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions
Investigation of NRXN1 deletions: Clinical and molecular characterization
A highly specific coding system for structural chromosomal alterations
Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis
Postnatal brain and skull growth in an Apert syndrome mouse model
Barriers for integrating personalized medicine into clinical practice: A qualitative analysis
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins
Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles
GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection
An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle
Recurrent agnathia–otocephaly caused by DNA replication slippage in PRRX1
The Salernitan school of medicine: Women, men, and children. A syndromological review of the oldest medical school in the western world
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1 , TANK , and PSMD14
Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations
Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability
A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A , PAPOLG , REL , and FLJ16341 in the 2p15-p16.1 microdeletion syndrome
Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency
Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome
High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome
FOP in China and Japan: An overview from domestic literatures
De novo 13q31.1–q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2
Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1q24.3 and complex chromosome rearrangement
6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome
Book review: The Autisms (4/E). Coleman Mary, Gillberg Christopher, Oxford University Press: Oxford, UK, 2012
Book review: Autism Spectrum Disorders. Amara David G, Dawson Geraldine, Geschwind Daniel H (Eds.). Oxford University Press: Oxford, UK, 2011
Antisense may make sense of 1q44 deletions, seizures, and HNRNPU
Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients
The MEF2C gene-microdeletion 5q14.3 dilemma and three axioms for molecular syndromology
A second report of p.Pro986Leu variant in COL2A1 -phenotypic overlap with SEDC and other forms of type II collagenopathies