+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Phenotype of 49,XXYYY



Phenotype of 49,XXYYY



Clinical Genetics 43(4): 196-199



A 7-year-old boy with 49,XXYYY karyotype is reported. Physical examination revealed facial dysmorphism, mild microcephaly, limitation of supination at the elbows, delayed bone age and moderate mental retardation.

(PDF emailed within 1 workday: $29.90)

Accession: 046973661

Download citation: RISBibTeXText

PMID: 8330452


Related references

A human intersex with XX/XXY/XXYYY sex chromosomes. Cytogenetics 1(2): 104-112, 1962

A huan intersex ('rue hermahrodite') with XX/XXY/ XXYYY sex chromosomes. Cytogenetics 1: 104-112, 1962

Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. Journal of Cardiovascular Electrophysiology 20(8): 923-930, 2010

Podoplanin-positive cancer-associated fibroblasts could have prognostic value independent of cancer cell phenotype in stage I lung squamous cell carcinoma: usefulness of combining analysis of both cancer cell phenotype and cancer-associated fibroblast phenotype. Chest 143(4): 963-970, 2013

Further insight into the switching from mosaic phenotype to single phenotype in human glioblastoma and neuroblastoma. Pigment Cell Research 15(Supplement 9): 77, 2002

Genetic association between low expression phenotype of CD62L in peripheral CD4+ T cells and the thid phenotype in the LEC rat. Experimental Animals (Tokyo) 50(4): 337-340, July, 2001

Genotype-phenotype correlations: assessing the influence of sequence variants on the clinical phenotype. Clinical Chemistry 51(1): 8-8, 2004

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. American Journal of Medical Genetics 84(1): 76-79, 1999

C-reactive protein polarizes human macrophages to an M1 phenotype and inhibits transformation to the M2 phenotype. Arteriosclerosis, Thrombosis, and Vascular Biology 31(6): 1397-1402, 2011

The phenotype in de novo and familial pericentric inversion 6. A problem in karyotype-phenotype correlation. Human Genetics 61(2): 167-170, 1982

Urinary tract infection due to mucoid phenotype Enterococcus faecalis: an emerging phenotype. Enfermedades Infecciosas Y Microbiologia Clinica 18(7): 369-370, 2001

Comprehensive Detection of Genes Causing a Phenotype using Phenotype Sequencing and Pathway Analysis. PLoS ONE 9(2): e88072, 2014

Identification of novel silent KEL alleles causing KEL?5 Ko phenotype or discordance between KEL1,?2 phenotype/KEL*01/02 genotype. 2013

D- phenotype Study of the alterations in the RHCE gene leading to this phenotype in three unrelated cases. Vox Sanguinis 83(Supplement 2): 146, August, 2002

Genotype-phenotype correlation of hereditary sensory neuropathy type 4 Extension of the phenotype. American Journal of Human Genetics 73(5): 550, November, 2003