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Neonatologist Pediatrician Report


47, CCCY Karyotype Suggesting Klinefelter's Syndrome

KLINEFELTERS_SYNDROME


Karyotype of a Patient Showing Ring 13 Chromosome

DOWNS_SYNDROME


Most Common Cytogenetic Abnormalities in Infants

RING13_CHROMOSOME


Karyotype of a Patient Showing Ring 13 Chromosome

CYTOGENETIC_ABNORMALITIES


Formation of Ring Chromosome

  • a) Classic mechanism with deletions in both arms and fusion of breakpoints and loss of distal segments

fusion_breakpoints

b) Telemore-to-telomere fusion

Telemore-to-telomere


Karyotype of a Female Showing Turner's Syndrome

TURNERSSYNDROME


Karyotype of the Child Showing 5p-, Suggesting cri-du-chat Syndrome

cri-du-chat_SYNDROME


Partial Metaphase Chromosome Showing Fragile 'X' Chromosome

X_CHROMOSOME


Fluorescence in Situ Hybridization (Fish) Showing William's Syndrome

WILLIAMS_SYNDROME