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High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
TLDR
It is reported that fusion of TEL to AML1 is specifically observed in at least 16% of the childhood B-lineage acute lymphoblastic leukemia investigated, none of which had been previously identified as harboring t(12;21).
Key clinical features to identify girls with CDKL5 mutations.
TLDR
It is shown that search for mutations in CDKL5 is indicated in girls with early onset of a severe intractable seizure disorder or infantile spasms with severe hypotonia, and inGirls with RTT-like phenotype and early onset seizures, though, in this cohort, mutations in CDsL5 account for about 10% of the girls affected by these disorders.
MECP2 mutations account for most cases of typical forms of Rett syndrome.
TLDR
It is shown that MECP2 mutations account for most cases of typical forms of RTT (65%) and mutations in non-coding regions cannot be excluded for the remaining cases, and an alternative hypothesis that takes into account the homogeneous phenotype and exclusive involvement of females, could be the implication in RTT of a putative second X-linked gene.
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
TLDR
To characterise this syndrome better, facilitate the diagnosis, and provide targeted health care for affected individuals, 33 patients are studied with a pure 22q13 partial monosomy, using molecular and cytogenetic methods.
Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature
TLDR
The overall frequency of mutations in CDKL5 in women with early‐onset seizures is around 8.6%, a result comparable with previous reports, but the mutation rate is high (28%) in womenwith early‐ONSet seizures and IS, and a review of all mutated alleles published in the literature.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
TLDR
The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.
The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.
TLDR
This study identified STAT5b as a new gene fused to RARA in leukaemia; this is the first human tumour bearing a structurally abnormal STAT gene.
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human
TLDR
It is proposed that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation.
AF6q21, a novel partner of the MLL gene in t(6;11)(q21;q23), defines a forkhead transcriptional factor subfamily.
TLDR
A novel gene, named AF6q21, encodes a forkhead (FH) protein with strong similarities to the two FH family members whose genes are already known to be involved in chromosomal translocations of human malignancies, AFX and FKHR, which could define a new FH subfamily particularly involved in humanmalignancies.
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females
TLDR
These new cases given additional support to the genetic heterogeneity in RTT and help to delineate the clinical spectrum of the FOXG1-related phenotypes should be considered in the molecular diagnosis of RTT.
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