Cargando…
Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) kary...
Autores principales: | Paththinige, C. S., Sirisena, N. D., Kariyawasam, U. G. I. U., Saman Kumara, L. P. C., Dissanayake, V. H. W. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004004/ https://www.ncbi.nlm.nih.gov/pubmed/27610251 http://dx.doi.org/10.1155/2016/4645716 |
Ejemplares similares
-
A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
por: Paththinige, C. S., et al.
Publicado: (2018) -
The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans
por: Paththinige, Chamara S., et al.
Publicado: (2019) -
Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature
por: Mishra, R., et al.
Publicado: (2018) -
Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review
por: Paththinige, CS, et al.
Publicado: (2017) -
Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations
por: Sirisena, Nirmala D., et al.
Publicado: (2013)