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Cri-du-chat syndrome, also called 5p− syndrome, cat cry syndrome, or Lejeune syndrome, congenital disorder caused by partial deletion of the short arm of chromosome 5.
The fact that some of the characteristics of perinatal caffeine exposure could be mimicked by partial deletion of a gene opens the possibility of examining whether it is effects in the mother or in the offspring during the perinatal period that determine the phenotype of the offspring in adulthood.
Indeed, mycolactone negative mutants frequently arise among laboratory passaged MU strains; caused by partial deletion of the mls genes [ 17].
Wolf-Hirschhorn syndrome (WHS) is caused by partial deletion of the short arm of chromosome 4 (4p- syndrome) [ 3– 5, 7].
Wolf-Hirschhorn syndrome, caused by partial deletion of the short arm of chromosome 4, is characterised by severe growth restriction and mental defect, microcephaly, 'Greek helmet' facies, and midline fusion defects.
Wolf-Hirschhorn syndrome is characterized by severe growth and mental retardation, microcephaly, seizures and 'Greek helmet' facies, caused by partial deletion of the short arm of chromosome 4. Growth charts are given from 0 4 years of age, based on the study of 101 individuals.
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However, not all of these loci (or genes within loci) are functional, as some HMR loci appear to be affected by either a frameshift mutation (e.g. the merA gene of CMGI-1 and the nccB gene of CMGI-30b) or by partial deletion (e.g. hmzA of CMGI-4 and merP of CMGI-30a ).
CTCF 30, created by a partial deletion of the P{EPgy2} element, is homozygous lethal.
WHS is caused by the partial deletion of the short arm of chromosome 4, which harbours two overlapping critical regions (WHSCR-1 and WHSCR-2) consisting of multiple genes.
Subsequently, pp65336-448, pp65336-439 and pp65336-422 fragments were created by partial deletion from the C-terminus of pp65336-561.
That chondrocyte hypertrophy is associated with cartilage degeneration in OA is also supported by the fact that partial deletion of RUNX-2 gene expression, which is believed to account for chondrocyte hypertrophy and MMP-13 upregulation (the two events being closely linked), retards cartilage degeneration in a mouse surgical model [ 26].
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