Document Detail


De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.
MedLine Citation:
PMID:  15658619     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay: We present clinical and cytogenetic data on an infant with de novo satellited 21 q. A 3-month-old boy was found to have microcephaly, developmental delay, hypertelorism, down-slanting palpebral fissures, large low-set ears, a prominent nose, a broad philtrum, a concealed penis, interventricular septal defects, corpus callosum dysgenesis, colpocephaly, ventriculomegaly, and a de novo karyotype of 46,XY,21qs. Standard Ag-NOR staining and FISH studies confirmed a satellite and a deletion on the long arm of a chromosome 21. Quantitative-fluorescent polymerase chain reaction using the polymorphic small tandem repeat markers specific for chromosome 21 determined a maternal origin of the deletion and the breakpoint between D21S156 (21q22.1) (present) and D21S53 (21q22.3) (absent), centromeric to the known minimal holoprosencephaly critical region, D21S13-21qter. The present case provides evidence of the correlation of a distal region of chromosome 21 to the phenotypic effects of monosomy 21.
Authors:
C P Chen; S P Lin; S R Chern; C C Lee; J K Huang; W Wang; Y W Liao
Related Documents :
17702009 - Icf syndrome: high variability of the chromosomal phenotype and association with classi...
1183239 - Attraction between centric heterochromatin of human chromosomes.
2998709 - Organization of a repetitive human 1.8 kb kpni sequence localized in the heterochromati...
6232119 - Development and use of metaphase chromosome flow-sorting methodology to obtain recombin...
7512879 - 5-azacytidine produces differential undercondensation of alpha, beta and classical huma...
4508329 - Location of ribosomal dna in the human chromosome complement.
16776599 - Chromosomal aneuploidy in african wildcat somatic cells and cloned embryos.
7697629 - 12q13, a new recurrent breakpoint in acute non-lymphoblastic leukemia.
2906039 - Tyrosine hydroxylase maps to the short arm of chromosome 11 proximal to the insulin and...
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  15     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2004  
Date Detail:
Created Date:  2005-01-20     Completed Date:  2005-04-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  437-42     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Alleles
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 21 / genetics*
Corpus Callosum / abnormalities
DNA, Satellite / genetics*
Genetic Markers
Genotype
Heart Defects, Congenital / complications,  genetics*
Holoprosencephaly / complications,  genetics
Humans
Infant
Karyotyping
Male
Mental Retardation / complications,  genetics*
Microcephaly / complications,  genetics*
Monosomy / genetics*
Occipital Lobe / abnormalities
Penis / abnormalities
Chemical
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi.
Next Document:  A new case of a severe clinical phenotype of the cat-eye syndrome.