Personalized medicine presents challenges and opportunities
New research may help differentiate similar diagnoses
In this issue
What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: New Frontiers
Speech–language characteristics of children with neurofibromatosis type 1
MTHFR , TGFB3 , and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China
Planar cell polarity pathway genes and risk for spina bifida
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene
Haploinsufficiency of the gene Quaking ( QKI ) is associated with the 6q terminal deletion syndrome 1
Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay
Methylation profiling in individuals with Russell–Silver syndrome
Identification of a 21q22 duplication in a Silver–Russell syndrome patient further narrows down the Down syndrome critical region
Survival of Texas infants born with trisomies 21, 18, and 13
Mortality and incidence in women with 47,XXX and variants
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20
Acute lymphoblastic leukemia in Weaver syndrome
X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers
Fetal constraint as a potential risk factor for craniosynostosis
The elements of morphology: Ear—An initial approach for the incisura
An interstitial 15q11-q14 deletion: Expanded Prader-Willi syndrome phenotype
Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother
FBN1 mutations in patients with descending thoracic aortic dissections
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features
Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome
Terminal 3p deletions in two families—Correlation between molecular karyotype and phenotype
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature
Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25 1
8q23-q24 duplication—further delineation of a rare chromosomal abnormality
Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20
The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?
Mowat–Wilson syndrome with associated dysphagia
Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features
Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2)
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1
A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1–q14.1 region in an affected son
OEIS complex associated with chromosome 1p36 deletion: A case report and review
Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature—Are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?
A review of facial image analysis for delineation of the facial phenotype associated with fetal alcohol syndrome
Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter