Browsing by Author "Puri, Ratna"

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    A familial deletion 4q syndrome: An outcome of a paracentric inversion.
    (2012-05) Lall, Meena; Puri, Ratna; Saviour, Pushpa; Verma, Ishwar
    Chromosome inversions are intra-chromosomal rearrangements formed when the chromosome breaks occur at two places, and in the process of repair the intervening segments are joined in an inverted or opposite manner. Inversions themselves do not appear to cause clinical anomalies, if balanced. Abnormal phenotypes can occur due to gene disruption at the point of breakage and reunion or due to duplication/deficiency recombinants formed during crossover at meiosis. We report a case with familial deletion 4q syndrome in a 1-year-old female child with dysmorphism and congenital abnormalities. The deletion was an outcome of a paracentric inversion 4q31.2q35.2. The deletion was confirmed by fluorescence in situ hybridization using telomeric DNA probes for chromosome No. 4. An attempt was made to correlate the genotype with the phenotype. The father had the same rearrangement with a milder phenotype. The recurrence risk in such cases is high.
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    Gerodermia Osteodysplastica.
    (2004-12-05) Paul, Ritu; Kapoor, Seema; Puri, Ratna; Bijarnia, Sunita
    Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndromes. Twenty five cases have been reported in the world literature to date. The authors report the first case from our country, a 13 year old female having phenotypic and radiological features suggestive of this genetic disorder.