TY - JOUR
T1 - Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q
AU - Cody, Jannine D.
AU - Ghidoni, Patricia Davis
AU - DuPont, Barbara R.
AU - Hale, Daniel E.
AU - Hilsenbeck, Susan G.
AU - Stratton, Robert F.
AU - Hoffman, Douglas S.
AU - Muller, Shaine
AU - Schaub, Rebecca L.
AU - Leach, Robin J.
AU - Kaye, Celia I.
N1 - Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 1999/8/27
Y1 - 1999/8/27
N2 - Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med. Genet. 69:280-286]. Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions have also been reported. We have evaluated 42 subjects with deletions of 18q at our institution. This is the largest number of individuals with this chromosome abnormality studied by one group of investigators. Here we report the physical findings in these individuals. We have compared our findings with those of previously reported cases and have found a significantly different incidence of several minor anomalies in our subjects. We also describe here several anomalies not previously reported in individuals with deletions of 18q, including short frenulum, short palpebral fissures, disproportionate short stature, overlap of second and third toes, and a prominent abdominal venous pattern. Characteristics found in subjects were analyzed for correlation with cytogenetic breakpoints. Several traits were found to correlate with the extent of the deletion. Large deletions were associated with significantly decreased head circumference and ear length as well as the presence of proximally placed and/or anomalous thumbs. Individuals with the smallest deletions were more likely to have metatarsus adductus. Although relatively few genotype/phenotype correlations were apparent, these data demonstrate that correlations with breakpoint are possible. This implies that more correlations will become evident when the more precise molecularly based genotyping is completed. These correlations will identify critical regions on the chromosome in which genes responsible for specific abnormal phenotypes are located.
AB - Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med. Genet. 69:280-286]. Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions have also been reported. We have evaluated 42 subjects with deletions of 18q at our institution. This is the largest number of individuals with this chromosome abnormality studied by one group of investigators. Here we report the physical findings in these individuals. We have compared our findings with those of previously reported cases and have found a significantly different incidence of several minor anomalies in our subjects. We also describe here several anomalies not previously reported in individuals with deletions of 18q, including short frenulum, short palpebral fissures, disproportionate short stature, overlap of second and third toes, and a prominent abdominal venous pattern. Characteristics found in subjects were analyzed for correlation with cytogenetic breakpoints. Several traits were found to correlate with the extent of the deletion. Large deletions were associated with significantly decreased head circumference and ear length as well as the presence of proximally placed and/or anomalous thumbs. Individuals with the smallest deletions were more likely to have metatarsus adductus. Although relatively few genotype/phenotype correlations were apparent, these data demonstrate that correlations with breakpoint are possible. This implies that more correlations will become evident when the more precise molecularly based genotyping is completed. These correlations will identify critical regions on the chromosome in which genes responsible for specific abnormal phenotypes are located.
KW - Chromosome 18q deletion
KW - Chromosome abnormalities
KW - Dysmyelination
KW - Mental retardation
KW - Neurological disorders
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U2 - 10.1002/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z
DO - 10.1002/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z
M3 - Article
C2 - 10405442
AN - SCOPUS:0033609907
SN - 0148-7299
VL - 85
SP - 455
EP - 462
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 5
ER -