Noninvasive prenatal tests for Down syndrome are near
Coming soon: NIH genetic test registry
In this issue
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype
Anatomic and etiological classification of congenital limb deficiencies
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
Balanced information about Down syndrome: What is essential?
Understanding physicians’ attitudes toward people with Down syndrome
Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family
Age related change in social behavior in children with Angelman syndrome
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
Genomic strategy identifies a missense mutation in WD-repeat domain 65 ( WDR65 ) in an individual with Van der Woude syndrome
Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype
High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR
Lethal presentation of neurofibromatosis and Noonan syndrome
Craniorachischisis and omphalocele in a stillborn cynomolgus monkey ( Macaca fascicularis )
Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age
Additional features of unique Primrose syndrome phenotype
Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement
The smallest teeth in the world are caused by mutations in the PCNT gene
Extending the phenotype of lethal skeletal dysplasia type al Gazali
Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2–5q35.3: An association with Hunter-McAlpine syndrome?
Type 1 collagenopathy presenting with a Russell-Silver phenotype
Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex
A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion
Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome
Significant liver disease in a patient with Y116H mutation in the MVK gene
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q
Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation
Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1
A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies
Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis
A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus
A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis
Book review
Cancer predisposition in children with Kabuki syndrome
Corrigendum to “Versteegh FGA, Buma SA, Costin G, Jong WC de, Hennekam RCM, EvC Working Party: 2007. Growth hormone analysis and treatment in Ellis-van Creveld syndrome. Am J Med Genet Part A 143A:2113–2121”