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Article

Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.

Indian journal of pediatrics - 1 Aug 2021

Nilay Mayank, Srivastava Priyanka, Rai Archana, Phadke Shubha R

Abstract excerpt

Genetic disorders can be monogenic or chromosomal. Deletions, duplications, and cryptic imbalances due to rearrangements of the telomeres are seen in a number of patients with psychomotor and language delay. Here, the authors report a case of 1-y-old boy born to nonconsanguineous couple who was evaluated for global developmental delay with phenotypic resemblance to a monogenic disorder namely Robinow syndrome....

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Identifiers

PMID: 34021867
DOI: 10.1007/s12098-021-03763-z

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