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    
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.
C P Chen; S P Lin; S R Chern; C C Lee; J K Huang; W Wang; Y W Liao
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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    
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 21 / genetics*
Corpus Callosum / abnormalities
DNA, Satellite / genetics*
Genetic Markers
Heart Defects, Congenital / complications,  genetics*
Holoprosencephaly / complications,  genetics
Mental Retardation / complications,  genetics*
Microcephaly / complications,  genetics*
Monosomy / genetics*
Occipital Lobe / abnormalities
Penis / abnormalities
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers

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