De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.
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.
Chen
C P
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
Lin
S P
SP
Chern
S R
SR
Lee
C C
CC
Huang
J K
JK
Wang
W
W
Liao
Y W
YW
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D000483:Alleles; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004276:DNA, Satellite / Q000235:genetics*; D005819:Genetic Markers; D005838:Genotype; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D016142:Holoprosencephaly / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D009006:Monosomy / Q000235:genetics*; D009778:Occipital Lobe / Q000002:abnormalities; D010413:Penis / Q000002:abnormalities
D004276:DNA, Satellite; D005819:Genetic Markers