NEONATOLOGIST PEDIATRICIAN REPORTS
47,XXY KARYOTYPE SUGGESTING KLINEFELTER’S SYNDROME
TRISOMY 21 IN PATIENT OF DOWN’S SYNDROME WITH ABNORMAL CHROMOSOME 1
MOST COMMON CYTOGENETIC ABNORMALITIES IN INFANTS
KARYOTYPE OF A PATIENT SHOWING RING 13 CHROMOSOME
FORMATION OF RING CHROMOSOME
a) Classic mechanism with deletions in both arms and fusion of breakpoints and loss of distal segments
b) Telemore-to-telomere fusion
KARYOTYPE OF A FEMALE SHOWING TURNER’S SYNDROME
KARYOTYPE OF THE CHILD SHOWING 5p-, SUGGESTING cri-du-chat SYNDROME
PARTIAL METAPHASE CHROMOSOME SHOWING FRAGILE ‘X’ CHROMOSOME
FLUORESCENCE IN SITU HYBRIDIZATION (FISH) SHOWING WILLIAM’S SYNDROME
