Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard

(2012) Jennelle C. Hodge et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

(2011) George Koumbaris et al.   HUMAN MOLECULAR GENETICS

Parental origin and mechanisms of formation of three eases of 12p tetrasomy

(2010) Catherine Turleau et al.   CLINICAL GENETICS

On the origin of extra isochromosomes

(2010) Horacio Rivera et al.   CLINICAL GENETICS

Parental age, and how extra isochromosomes (secondary trisomy) arise

(2010) D. L. Van Dyke et al.   CLINICAL GENETICS

Pallister-Killian syndrome: cytogenetic and molecular studies

(2010) P. Peltomäki et al.   CLINICAL GENETICS

Phenotypic overlapping of trisomy 12p and Pallister–Killian syndrome

(2010) Eisuke Inage et al.   European Journal of Medical Genetics

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy

(2009) Aaron Theisen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p

(2009) Ida Vogel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

High-Resolution Mapping of Crossovers Reveals Extensive Variation in Fine-Scale Recombination Patterns Among Humans

(2008) G. Coop et al.   SCIENCE