A ring D chromosome in association with Down's syndrome-like phenotype

A ring D chromosome in association with Down's syndrome-like phenotype

Show other versions (1)

The case of a ten-years-old mentally retarded girl with Down's syndrome-like features whose chromosome analysis revealed an unusual mosaicism including 10% mitosis with a ring chromosome replacing a D chromosome is reported. The clinical features of the patient were considered similar to those...

Full description

Bibliographic Details
Main Authors:	A. Wajntal, A. J. Diament, P. H. Saldanha
Format:	Article
Language:	English
Published:	Academia Brasileira de Neurologia (ABNEURO) 1973-03-01
Series:	Arquivos de Neuro-Psiquiatria
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1973000100004

Similar Items

A ring D chromosome in association with Down's syndrome-like phenotype
by: A. Wajntal, et al.
Published: (1973-03-01)

Síndrome de Pyle com fragmentação cromossômica
by: Aron J. Diament, et al.
Published: (1971-03-01)

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes
by: Angela Peron, et al.
Published: (2020-12-01)

Turner syndrome with ring x chromosome: do they have a distinct phenotype?
by: Lee, Yee Ling, et al.
Published: (2018)

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
by: Franziska Schnabel, et al.
Published: (2018-12-01)

Understanding the basis for Down syndrome phenotypes.
by: Randall J Roper, et al.
Published: (2006-03-01)

Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature
by: Jacopo Pruccoli, et al.
Published: (2021-09-01)

Down on chromosome 21?
by: Hardy, J, et al.
Published: (1989)

Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation
by: Shun-Jen Tan, et al.
Published: (2012-03-01)

The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review
by: Meiping Chen, et al.
Published: (2021-12-01)

Antígeno da hepatite B na síndrome de Down Hepatitis B antigen in Down's syndrome
by: Roberto de Almeida Moura, et al.
Published: (1974-12-01)

Prenatal diagnosis of complete ring chromosome 22 without phenotypical abnormalities
by: Bin Liou, et al.
Published: (2014-09-01)

Understanding the basis for Down syndrome phenotypes.
Published: (2006-03-01)

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects
by: Benjamin L. Rambo-Martin, et al.
Published: (2018-01-01)

Down Syndrome: Neuropsychological Phenotype across the Lifespan
by: Margaret Pulsifer
Published: (2021-10-01)

Phenotype of apoptotic lymphocytes in children with Down syndrome
by: Elsayed Ghada M, et al.
Published: (2009-03-01)

Macrossomia, macrocrania e incoordenação motora da infância síndrome de sotos (Mckusick 11755) estudo de 7 casos e revisão de aspectos clínicos de 198 casos publicados
by: Danilo Moretti-Ferreira, et al.
Published: (1991-06-01)

Bioinformatics Investigation and Contribution of Other Chromosomes Besides Chromosome 21 in the Risk of Down Syndrome Development
by: Mona Zamanian Azodi, et al.
Published: (2021-01-01)

Exploring the genes of chromosome 21 in a Down syndrome mouse model
Published: (2021-10-01)

Epilepsy in ring chromosome 20 syndrome might have variable clinical features
by: Abhijit Anil Patil, et al.
Published: (2020-01-01)

Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report
by: A Radha Rama Devi
Published: (2012-04-01)

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
by: Giordano Lucio, et al.
Published: (2010-10-01)

Nonconvulsive Status and Ring Chromosome 20
by: J Gordon Millichap
Published: (1997-07-01)

Mechanisms of ring chromosome formation, ring instability and clinical consequences
by: Guilherme Roberta S, et al.
Published: (2011-12-01)

Digastric Muscle Phenotypes of the Ts65Dn Mouse Model of Down Syndrome.
by: Tiffany J Glass, et al.
Published: (2016-01-01)

Never settling down: frequent changes in sex chromosomes.
by: Kevin H-C Wei, et al.
Published: (2015-04-01)

The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes
by: Peining Li, et al.
Published: (2022-10-01)

Phenotypic aspects of oral strains of Candida albicans in children with down's syndrome
by: E. L. Ribeiro, et al.

X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study
by: Lystra P. Hayden, et al.
Published: (2023-02-01)

Correlation genotype-phenotype and molecular analysis in patients with Down syndrome
by: Nora Constanza Contreras Bravo, et al.
Published: (2012-09-01)

The Down Syndrome Biomarker Initiative (DSBI) Pilot: Proof of Concept for Deep Phenotyping of Alzheimer’s Disease Biomarkers in Down Syndrome
by: Michael eRafii, et al.
Published: (2015-09-01)

Alzheimer’s disease like neuropathology in Down syndrome cortical organoids
by: Helen H. Zhao, et al.
Published: (2022-12-01)

P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome
by: Matthew Hoi Kin Chau, et al.
Published: (2023-01-01)

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome
by: Chih-Ping Chen, et al.
Published: (2021-01-01)

Phenotypic switching to hypereosinophilia during cytoreductive therapy for transient abnormal myelopoiesis associated with Down syndrome
by: Kenichiro Kobayashi, et al.
Published: (2022-05-01)

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
by: Deepa Banker, et al.
Published: (2023-01-01)

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
by: Hunjin Luo, et al.
Published: (2022-03-01)

Gaucher-like cells in myelodysplastic syndrome with ring sideroblasts
by: Christelle El Khoury, et al.
Published: (2022-01-01)

Molecular insights into Down syndrome-associated leukemia.
by: Vyas, P, et al.
Published: (2007)

A case of drug-resistant epilepsy associated with ring chromosome 20
by: Anvesh Balabhadra, et al.
Published: (2021-01-01)