Journal of Down Syndrome & Chromosome Abnormalities

Journal of Down Syndrome & Chromosome Abnormalities
Open Access

ISSN: 2472-1115

Yang Li

Key Laboratory of Cancer Prevention and Therapy, Tianjin, China

Publications
  • Short Communication   
    Genetic Disorder of Cri Du Chat Syndrome Due to a Partial Chromosome Deletion on Chromosome 5
    Author(s): Yang Li*

    The Cri du Chat condition (CdCS) is a hereditary infection coming about because of a cancellation of variable size happening on the short arm of chromosome 5 (5p-). The rate goes from 1:15,000 to 1:50,000 live-conceived babies. The super clinical highlights are a piercing monochromatic cry, microcephaly, expansive nasal extension, epicanthal folds, micrognathia, unusual dermatoglyphics, and extreme psychomotor and mental hindrance. Deformities, albeit not exceptionally continuous, might be available: heart, neurological and renal anomalies, preauricular labels, syndactyly, hypospadias, and cryptorchidism. Sub-atomic cytogenetic investigation has permitted a cytogenetic and phenotypic guide of 5p to be characterized, regardless of whether results from the examinations detailed up to now are not totally in arrangement. Genotype-aggregate connection studies showed a clinical and cytogene.. View More»

    Abstract HTML PDF

Top