Matt Crocker

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Inactivation (lyonization) of one of the two copies of X-linked genes occurs in female mammals, thereby reducing the number of active copies to that of the male. It has been suggested that genes subject to lyonization would be expected to be preserved as a linkage group during mammalian evolution. A short region of the human X chromosome containing several(More)
We report a post-natal case of mosaic aneuploidy for chromosome 20 in a 4 months old male baby with an abnormal phenotype including dysmorphic features (asymmetric facial growth), ventricular septal defect, hypotonia and bilateral vesicoureteric reflux. Conventional cytogenetics on peripheral blood showed 1 cell of 200 with 47,XY,+20. Further investigations(More)
A newborn girl presented with generalized mild dysmorphic features. She later developed heart failure and hydrocephalus, and died aged 5 months. Chromosome analysis revealed an unbalanced reciprocal translocation (with partial trisomy for half of the long arm of 7 and partial monosomy for the short arm of chromosome 9) and normal but inappropriate sex(More)
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a birth incidence of 1/3,500. Around 50% of cases are due to new mutations. The NF1 gene maps to 17q11.2 and encodes neurofibromin. NF1 is a "classical" tumor suppressor gene. Congenital disseminated NF1 is rare with just two cases previously reported. We present a deceased baby with(More)
A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence(More)
A previously healthy young primigravida suffered very severe pre-eclampsia and was delivered at 32 weeks gestation. The baby was growth retarded with dysmorphic features, and died aged 4 days. Chromosome analysis of the baby revealed partial trisomy 13 resulting from recombination within a maternal insertion of part of 13q into 3p. To date, the maternal(More)
We propose a theory of utterance processing meant to clarify the respective roles of incrementality and underspecification in semantic interpretation. After reviewing the available psychological evidence, we introduce (i) a theory of the semantic interpretations constructed by the language processor while processing utterances in an incremental fashion,(More)
Klinefelter syndrome is an abnormality of sexual development which is usually characterised by the chromosome complement 47,XXY. We present a case of a male patient with the phenotypic appearance of Klinefelter syndrome and primary infertility, who was found, on karyotype analysis, to have a hitherto undescribed inversion of the long arm of the X chromosome(More)
A case of an X-autosome rearrangement is presented in which part of the Xpter is deleted but the STS and MIC2X loci are retained. The normal X is late replicating in 97/100 lymphocytes and 50/50 fibroblasts examined. It is assumed that the initial X-inactivation in the embryo is random, but that cells with the rearranged X inactivated are selected against(More)