Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype
Autor: | Archana Rai, Mayank Nilay, Shubha R. Phadke, Priyanka Srivastava |
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Rok vydání: | 2021 |
Předmět: |
Male
Monosomy Limb Deformities Congenital Dwarfism Trisomy Chromosomes Craniofacial Abnormalities 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Humans Medicine Global developmental delay Hypertelorism Genetics business.industry Rhizomelia Macrocephaly Chromosome Micropenis medicine.disease Robinow syndrome Phenotype Urogenital Abnormalities Pediatrics Perinatology and Child Health Chromosome Deletion medicine.symptom business 030217 neurology & neurosurgery |
Zdroj: | Indian Journal of Pediatrics. 88:813-818 |
ISSN: | 0973-7693 0019-5456 |
Popis: | 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. Cytogenetic microarray showed a double segment imbalance involving chromosome 6p25.3p25.2 and chromosome 8q23.3q24.3. Robinow syndrome also known as fetal face syndrome is a rare disorder with characteristic facial phenotype resembling fetal face with macrocephaly, low-set ears, broad great toes, gum hypertrophy, micropenis, and rhizomelia. Facial features include hypertelorism, wide mouth and short nose with upturned tip. It can have dominant or recessive mode of inheritance. The chromosomal abnormality in this case may provide clue to some novel gene for Robinow syndrome etiology. |
Databáze: | OpenAIRE |
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